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Introduction: The term Corneal Dystrophy refers to a rare heterogeneous group of genetically determined, bilateral, symmetric, primary diseases, restricted to cornea and not associated with previous ocular inflammation. The dystrophies are classified based on the layer of cornea involved, into superficial, stromal and posterior dystrophies, each of which is genetically determined. Though the clinical features are often characteristic, definitive diagnosis is possible only after histological examination. The management protocols and visual prognosis vary with the underlying conditions. The incidence of the subtypes varies with the geographic locations. Objective: To study the prevalence of various subtypes of Corneal Dystrophies in corneal button specimens obtained after penetrating keratoplasty in a referral ophthalmic institute and to correlate with the patient’s age and sex. Materials and Methods: Corneal button specimens received in the ocular pathology laboratory over a period of five years were reviewed. Histopathological features of Corneal Dystrophies were studied and subcategorised. Cliniopathological analysis was made. Results: Out of 660 corneal biopsies reviewed, 42 cases were of corneal dystrophy. The patients were between 2 and 71 years of age, with 14 males and 28 females. Macular dystrophy was the most common with 20 cases, followed by Congenital Hereditary Endothelial Dystrophy (CHED) and Fuch’s endothelial dystrophy (FECD), with 7 cases each. Epithelial basement membrane dystrophy, Reis Buckler Dystrophy (RBCD), Granular dystrophy were the other types. Conclusion: Histopathological sub categorisation of various types of Corneal Dystrophies not only helps in understanding the prevalence, but also in predicting the genetic link and prognosis of the disease category. Keywords: Cornea, CHED, Dystrophy, Fuch, Macular.

Purpose of review Ocular surface disease can significantly impact the outcomes of cataract surgery. Recent studies have examined the efficacy of several new dry eye disease (DED) therapies, the extent to which epithelial debridement affects keratometric measurements in epithelial basement membrane dystrophy (EBMD) and Salzmann nodular degeneration (SND), and the predictability of refractive error following combined pterygium and cataract removal. This review aims to incorporate these newer studies in updating and further emphasizing the need for careful management and optimization of common ocular surface conditions prior to cataract surgery. Recent findings Common ocular surface conditions such as DED, EBMD, SND, and pterygium can cause significant irregular astigmatism and higher-order aberrations. Their resolution can substantially alter biometry measurements in preparation for cataract surgery, affecting the final visual outcome. Newer therapies for DED, such as topical lifitegrast and thermal pulsation treatment, can aid in this optimization process. If superficial keratectomy or excisions of lesions on the ocular surface are performed, sufficient healing time is needed to allow the ocular surface to reach stability prior to biometry measurements. Summary Ocular surface optimization is key to successful cataract surgery planning and reaching desired outcomes.

Photorefractive keratectomy (PRK) was performed to treat corneal epithelial basement membrane dystrophy (EBMD) found after femtosecond laser-assisted laser in situ keratomileusis (FS-LASIK) in a 29-year-old man with previous silent cornea. The patient was diagnosed with post-FS-LASIK EBMD by slitlamp examination and in vivo confocal microscopy (IVCM). Initial treatment with topical lubricants and alcohol soaking was unsuccessful, and the patient continued to have blurred vision and discomfort. The patient underwent a PRK procedure, and the symptoms resolved dramatically; residual refractive errors were also corrected. IVCM revealed a characteristic presentation of EBMD before PRK and normal corneal epithelium after treatment. Patients with asymptomatic EBMD might suffer from recurrent corneal erosions after FS-LASIK. Surface ablation including PRK might lead to successful treatment outcomes, and IVCM might provide helpful information before and after treatment.

To determine the effects of epithelial basement membrane dystrophy (EBMD) and Salzmann nodular degeneration (SND) on optical biometry measurements.Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA.Retrospective case series.Cataractous eyes with EBMD or SND scheduled for superficial keratectomy (SK) or phototherapeutic keratectomy (PTK) had baseline biometry. Repeat biometry was performed 30 days or more postoperatively and compared with baseline. The primary outcome measures were keratometry (K) values, axial length and magnitude, and axis of corneal astigmatism. Secondary outcome measures were the change in intraocular lens (IOL) power, toricity, and axis.In the EBMD group (26 eyes), the mean absolute intersession difference showed an increase in mean K values (P .001) and a change in IOL spherical power predicting a postoperative spherical equivalent (SE) closest to zero (P .001) in 21 of 26 eyes (8 = 0.5 diopter [D]; 9 = 1.0 D; 4 1.0 D). In toric IOL-eligible eyes, the recommended IOL toricity changed for 16 of 24 eyes, with a mean cylinder power change of 1.2 D. In the SND group (13 eyes), the mean absolute intersession difference showed an increase in mean K values (P = .023) and a change in IOL spherical power predicting a postoperative SE closest to zero (P .001) in 11 of 13 eyes (3 = 0.5 D; 3 = 1.0 D; 5 1.0 D). The recommended IOL toricity changed for 10 of 11 eyes (mean cylinder power change 1.5 D).Both EBMD and SND altered K measurements as evidenced by clinically significant changes in keratometry after SK or PTK. These changes affected the spherical and toric IOL power. Appropriate management of EBMD and SND before cataract surgery can yield more reliable biometric data for surgical planning.

Purpose: Treatment of persistent ocular discomfort in patients with Cogan's epithelial basement membrane dystrophy (EBMD) is a challenge for ophthalmologists. This study aimed to determine...

We describe two patients in whom postsurgical refractive error occurred after routine refractive lens exchange cataract surgery with multifocal intraocular lens insertion most likely attributable to the presence of underlying corneal epithelial basement membrane dystrophy (EBMD). In Case 1, there was an unexpected hyperopic postoperative spherical equivalent refractive error of +1.50 diopters and in Case 2, a cylindrical refractive error of 2.75 diopter cylinder. We examine the possible causes of error and discuss potential management strategies to prevent and address these unpredictable postoperative outcomes. The importance of comprehensive and careful ocular surface assessment before cataract or refractive surgery as part of the presurgical workup is reemphasized. EBMD can be subtle and if overlooked, can affect the validity of biometric keratometric measurements preoperatively, resulting in an inaccurate biometry measurement, incorrect IOL selection, and reduced visual performance and patient satisfaction.

In 2015, the first revision of the international classification of corneal dystrophies (IC3D) has been published. According to this latest version of the IC3D the dystrophies of the cornea are divided into · epithelial and subepithelial dystrophies,. · epithelial-stromal TGFBI dystrophies,. · stromal dystrophies, and. · Descemet-membrane and endothelial dystrophies.. This article summarizes the epithelial and subepithelial dystrophies of the cornea, which, according to IC3D are the following: · epithelial basement membrane dystrophy (EBMD),. · epithelial recurrent erosion dystrophy (ERED),. · subepithelial mucinous corneal dystrophy (SMCD),. · Meesmann corneal dystrophy (MECD),. · Lisch epithelial corneal dystrophy (LECD),. · gelatinous drop-like corneal dystrophy (GDLD).. The main problem concerning almost all dystrophies of the corneal epithelium are epithelial defects (erosion) associated with pain, epiphora and red eyes. In addition, all dystrophies of the epithelium tend to relapse.While therapy is usually initiated with topical therapeutics, in the course of the disease invasive procedures like phototherapeutic keratectomy (PTK) (possibly with the administration of mitomycin C) or in severe cases even keratoplasty (preferably as deep anterior lamellar keratoplasty; DALK) have to be used. Due to the origin of the disease in the epithelial stem cells at the limbus, the replacement of these cells can also be discussed.

Purpose To comprehensively review the literature regarding recurrent corneal erosion (RCE) and to present treatment options and recommendations for management. Overview RCE usually presents with sharp, unilateral pain upon awakening, in an eye with an underlying basement membrane dystrophy, prior ocular trauma, stromal dystrophy or degeneration, or prior surgery for refractive errors, cataracts, or corneal transplantation. Making the correct diagnosis requires a careful slit-lamp examination of both eyes coupled with a high degree of suspicion. Several treatments are commonly used for RCE but new therapies have been introduced recently. Conservative treatment consists of antibiotic and preservative-free lubricating drops, with topical cycloplegics and oral analgesics to control pain. Patients who are unresponsive to these therapies may benefit from therapeutic bandage contact lenses (BCL). Newer therapies include oral matrix metalloproteinase (MMP) inhibitors, blood-derived eye drops, amniotic membrane graft application, and judicious application of topical corticosteroids. Once the epithelium is healed, a course of hypertonic saline solution and/or ointment can be used. Surgical procedures may be performed in patients who fail conservative therapy. Punctal occlusion with plugs increases the tear film volume. Epithelial debridement with diamond burr polishing (DBP), anterior stromal puncture (ASP), or alcohol delamination should be considered in selected patients. DBP can be used for patients with basement membrane dystrophies and is the preferred treatment overall due to a low recurrence rate. ASP can be used for erosions outside the central visual axis. Excimer laser phototherapeutic keratectomy is an attractive option in eyes with central RCE since it precisely removes tissue while preserving corneal transparency. In patients with RCE who are also candidates for refractive surgery, photorefractive keratectomy can be considered. Summary Newly introduced therapies for RCE enable therapy to be individualized and lower the recurrence rate.

A 73-year-old man presented with bilateral corneal opacities. Slit-lamp biomicroscopy showed vortex and oval-shaped opacities. In vivo confocal microscopy (IVCM) showed findings characteristic of amiodarone-induced keratopathy along with epithelial basement membrane dystrophy (EBMD). The IVCM findings indicated that the oval-shaped opacities can be present with amiodarone-induced keratopathy in patients with EBMD.

Purpose To report the prevalence of ocular surface dysfunction in patients presenting for cataract surgery evaluation. Setting Duke University Eye Center and Weill Cornell Ophthalmology, single-physician practices. Design Prospective case series. Methods Consecutive patients presenting for cataract surgery evaluation were identified. Patient information including demographics, medical history, slitlamp findings, tear osmolarity, and tear matrix metalloproteinase-9 (MMP-9) levels were recorded. Patients were considered to have ocular surface dysfunction if any of the following outcomes were present: visually significant abnormal corneal surface examination, positive MMP-9 test, or abnormal osmolarity values (>307 mOsm/L or >7 mOsm/L intereye difference). Patient symptoms were recorded using the ocular surface disease index (OSDI) or Symptom Assessment iN Dry Eye questionnaires. Results There were 120 patients (69% women), mean age 69.5 years ± 8.4 (SD). Abnormal osmolarity was found in 68 patients (56.7%), and abnormal MMP-9 in 76 patients (63.3%). Clinical findings showed that 47 patients (39.2%) had positive corneal staining on presentation, 9 patients (7.5%) had epithelial basement membrane dystrophy, and 2 patients (1.6%) had Salzmann nodules. Questionnaire data showed 54 (54.0%) of 100 patients reported symptoms suggestive of ocular surface dysfunction. In the asymptomatic group of 46 patients, 39 (85%) had at least 1 abnormal tear test (osmolarity or MMP-9) and 22 (48%) had both tests abnormal. Overall, 96 (80%) of 120 patients had at least 1 abnormal tear test result suggestive of ocular surface dysfunction and 48 patients (40%) had 2 abnormal results. Conclusions Objective ocular surface dysfunction findings were common among patients presenting for cataract surgery, yet many presented undiagnosed. Clinicians should be aware of this high prevalence and consider screening with tear testing before surgery.

PURPOSEThis case report highlights how epithelial basement membrane dystrophy (EBMD), coupled with dry eye, can contribute to symptoms of unstable vi-sion and discomfort. This report also reviews corneal dystrophies and offers eye care practitioners (ECPs) clinical pearls for identifying key features. CASE REPORTA 62-year-old Caucasian female presented for a dry eye evaluation due to fluctuating vision and longstanding ocular discomfort, despite ocular lubri-cation. Anterior segment examination revealed Meibomian gland dysfunc-tion (MGD), upper lid margin staining (ULMS) and anterior blepharitis. The patient was unaware of a pre-existing EBMD and this lack of knowl-edge contributed to her frustration concerning her unstable vision, which she had solely attributed to her glasses. Management included warm com-presses for MGD and targeted preservative-free artificial tears for ULMS and EBMD. Photographs were essential for educating the patient with respect to the irregularities of the ocular surface and its effect on vision. This provided a deeper understanding of the multifactorial nature of her symptoms.CONCLUSIONUnstable and/or poor vision is among the main reasons why patients con-sult ECPs and it can be difficult to identify contributory factors. This report highlights that additional chair time may be warranted to educate patients on the multifactorial nature of dry eye and the complexities of corneal dys-trophy.

Purpose To investigate the corneal epithelial thickness topography with optical coherence tomography (OCT) and its relationship with vision quality in epithelial basement membrane dystrophy (EBMD). Methods 45 eyes of EBMD patients, 26 eyes of dry eye (DED) patients and 22 eyes of normal subjects were enrolled. All participants were subjected to 9-mm corneal epithelial mapping with OCT and vision quality was assessed with the optical quality analysis system using the objective scatter index (OSI). Central, superior, inferior, minimum, maximum, and standard deviation of epithelium thickness (Irregularity), were analysed and correlations with the OSI were calculated. Results The mean (±SD) central, inferior and maximum epithelial thicknesses of the EBMD patients (respectively, 56.4 (±8.1) μm, 58.9 (±6.4) μm, and 67.1 (±8.3) μm) were thicker compared to DED patients (PPP = 4.4.10−6) and normal subjects (2.1±0.7 μm) (P = 7.6.10−7). The mean OSI was worse in EBMD patients than in DED patients (P = 0.01) and compared to normal subjects (P = 0.02). The OSI correlated with the epithelial thickness irregularity (Spearman coefficient = 0.54; P = 2.65.10−5). Conclusions The OCT pachymetry map demonstrated that EBMD patients had thicker corneal epithelium in the central and inferior region. These changes were correlated with objective measurements of vision quality. This OCT characterisation of the EMBD provides a better understanding of the epithelial behaviour in this dystrophy and its role in vision quality.

Objective To determine the misdiagnosis of ectasia in patients referred for corneal crosslinking and possible topography-guided photorefractive keratectomy (PRK) or intrastromal corneal rings. Setting Bochner Eye Institute, Toronto, Ontario, Canada. Design Retrospective data review. Methods Chart review of consecutive cases referred for corneal crosslinking to determine the number of cases of misdiagnosis of ectasia. Examination findings were reviewed consisting of best-corrected spectacle distance acuity, slit lamp examination, and computerized tomography. Results The study analyzed 1000 consecutive records of patients referred with a presumed diagnosis of keratoconus, pellucid marginal degeneration, and ectasia after laser vision correction that were examined between January 1, 2010 and November 1, 2016. There were 26 eyes without ectasia detected in 20 patients. The etiology of these misdiagnoses was epithelial basement membrane dystrophy (9 eyes), superficial punctate keratitis (7 eyes), amblyopia secondary to high astigmatism (3 eyes), amiodarone keratopathy (2 eyes), corneal warpage from rigid gas permeable lenses (2 eyes), corneal scars (1 eye), and measurement or alignment error with topography (2 eyes). Conclusion Analysis of data detected a misdiagnosis of ectasia in 20 patients (26 eyes), a finding of 2.0% (20 of 1000) of referred cases that did not satisfy the diagnostic criteria of corneal ectasia. These conditions are considered a contraindication to corneal crosslinking and there is usually no benefit to topography-guided PRK or intrastromal corneal rings. It is important that clinicians recognize the clinical findings of these conditions and differentiate from true keratoconus, pellucid marginal degeneration, or ectasia after laser vision correction.

Purpose To determine the efficacy of epithelial debridement and diamond burr polishing (ED + DBP) in managing recurrent corneal erosion (RCE) and visually significant epithelial irregularity associated with epithelial basement membrane dystrophy (VS-EBMD). Methods Retrospective, interventional, consecutive case series of all ED + DBP procedures performed between December 1, 2002, and December 1, 2014. Results ED + DBP was performed in 91 eyes (66 patients) for the management of RCE and VS-EBMD. Sixty percent (55/91) of the procedures were performed for RCE, of which 65% (36/55) were associated with EBMD and 22% (12/55) with previous corneal trauma. Forty-six percent (42/91) of the procedures were performed for VS-EBMD, including 6 eyes with RCE. RCE resolved after treatment in 97% of eyes with >3 months of follow-up (mean, 33.2 months; range, 3.5-137.6 months). Corrected distance visual acuity (CDVA) and mean topographic astigmatism improved significantly in the 36 eyes treated for VS-EBMD with >1 month of follow-up. In none of the 22 eyes treated for VS-EBMD with >3 months of follow-up did EBMD recur (mean, 31.7 months; range, 3.2-137.6 months). Surgically induced subepithelial haze was present on last follow-up in 9.4% (8/85) of eyes with >1 month of follow-up, but was not associated with decreased final CDVA in any patient. Conclusions ED + DBP is effective in producing long-term resolution of RCE in 95% of treated eyes and significant improvement in CDVA, decreased topographic astigmatism, and long-term resolution of VS-EBMD in 100% of treated eyes.

Corneal dystrophies are a rare group of hereditary disorders, that are bilateral, non-inflammatory, and progressive. Clinically, they can be classified based on the anatomic layer of the cornea affected. Refractive surgery and phototherapeutic keratectomy (PTK) can be performed with caution in patients with certain corneal dystrophies, but should be avoided in others. For epithelial basement membrane dystrophy, photorefractive keratectomy (PRK) is the procedure of choice for treatment of refractive error, and PTK may be performed for the treatment of recurrent erosions or irregular astigmatism. PRK and laser-assisted in situ keratomileusis (LASIK) have been associated with exacerbation of combined granular-lattice corneal dystrophy. LASIK and PRK appear to be safe in mild forms of posterior polymorphous corneal dystrophy, whereas LASIK should be avoided in Fuchs dystrophy. The safety of refractive surgery and PTK in the remainder of epithelial, Bowman layer, and stromal dystrophies has yet to be established.

Purpose: To report the observation of a triple corneal dystrophy association consisting of keratoconus (KC), epithelial basement membrane corneal dystrophy (EBMCD) and Fuchs' endothelial corneal dystrophy (FECD). Methods: A 55-year-old male patient was referred to our cornea service for blurred vision and recurrent foreign body sensation. He reported bilateral recurrent corneal erosions with diurnal visual fluctuations. He underwent corneal biomicroscopy, Scheimpflug tomography, in vivo HRT confocal laser scanning microscopy and genetic testing for TGFBI and ZEB1 mutations using direct DNA sequencing. Results: Biomicroscopic examination revealed the presence of subepithelial central and paracentral corneal opacities. The endothelium showed a bilateral flecked appearance, and the posterior corneal curvature suggested a possible concomitant ectatic disorder. Corneal tomography confirmed the presence of a stage II KC in both eyes. In vivo confocal laser scanning microscopy revealed a concomitant bilateral EBMCD with hyperreflective deposits in basal epithelial cells, subbasal Bowman's layer microfolds and ridges with truncated subbasal nerves as pseudodendritic elements. Stromal analysis revealed honeycomb edematous areas, and the endothelium showed a strawberry surface configuration typical of FECD. The genetic analysis resulted negative for TGFBI mutations and positive for a heterozygous mutation in exon 7 of the gene ZEB1. Conclusion: This is the first case reported in the literature in which KC, EBMCD and FECD are present in the same patient and associated with ZEB1 gene mutation. The triple association was previously established by means of morphological analysis of the cornea using corneal Scheimpflug tomography and in vivo HRT II confocal laser scanning microscopy.

Rationale: The etiology of anterior corneal opacities and the effect of debridement cannot be determined by biomicroscopy. Optical coherence tomography (OCT) helps identify the character and depth of these lesions. Patient concerns: A 45-year-old female complained of progressive blurred vision for a long time. Slit lamp biomicroscopy showed irregular, faint scar-like opacity of anterior cornea in her both eyes. Pentacam Scheimpflug camera tomography showed irregular astigmatism of anterior corneal surface. Anterior segment spectral-domain OCT revealed thickened, hyper-reflective linings, and scattered lesions, mainly in the epithelial layer. Diagnoses: Epithelial basement membrane dystrophy (EBMD). Intervention: Epithelial debridement and bandage lenses. Outcomes: The cornea became clear and the vision improved soon after debridement. The pathology showed thickened aberrant basement membrane extending into mid-epithelial layer, with microcyst-like lesions also noted. Lessons: OCT defines the depth of lesions and helps diagnosis and management of EBMD.

A 48-year-old woman with no significant past history underwent bilateral simultaneous laser in situ keratomileusis for correction of her myopia. On the tenth postoperative day, the patient complained of visual decrease and photophobia. Slit lamp exam showed corneal epithelial irregularities. Confocal microscopy was performed and revealed a characteristic appearance of epithelial basement membrane dystrophy (EBMD). The patient was successfully treated with artificial tears and autologous serum eyedrops. EBMD may be missed before LASIK surgery, even after a careful pre-operative examination. Exacerbation of EBMD after LASIK surgery is rare. It should be considered when unexplained corneal epithelial defects or irregularities occur following LASIK. Confocal microscopy is very useful to confirm the diagnosis.

Purpose To describe the corneal findings in posterior polymorphous corneal dystrophy (PPCD) as imaged with laser scanning in vivo confocal microscopy (IVCM). Methods IVCM images of 7 subjects with PPCD who had typical slit-lamp biomicroscopic findings of endothelial vesicular, band, and/or placoid lesions were evaluated. Results Five women and 2 men aged 7 to 64 years were included in this study. Laser scanning IVCM (Heidelberg Retina Tomograph II, Rostock Cornea Module) revealed hyporeflective, round, vesicular lesions with diameters ranging between 20 and 200 µm in 3 subjects, combined vesicular and curvilinear hyperreflective band-like lesions in 3 subjects, and combined vesicular and placoid hyperreflective lesions in 1 subject at the level of Descemet membrane (DM), endothelial cell layer, and posterior stroma adjacent to DM. One subject had coassociated epithelial basement membrane dystrophy. Additional findings included posterior stromal keratocytes with elongated spindle-like nucleus, giant and nucleated endothelial cells, endothelial deposits, and guttae-like dark spots. The mean endothelial cell density was 1485.7 ± 486.3 cells per square millimeter (range, 990-2365 cells/mm). The mean central corneal thickness was 585.3 ± 37.17 μm (range, 534-643 μm). Conclusions Laser scanning IVCM is able to highlight the characteristic microstructural alterations at the level of endothelium and DM in the setting of PPCD and may have diagnostic utility in equivocal cases with borderline biomicroscopic findings. The possible association of PPCD with epithelial basement membrane dystrophy warrants further investigation.

Background: Epithelial basement membrane dystrophy (EBMD) is by far the most common corneal dystrophy. In this study, we used a newly developed method of immunofluorescence staining and imaging to study the entire corneal nerve architecture of a donor with unilateral EBMD. Method: Two fresh eyes from a 56-year-old male donor were obtained; the right eye of the donor was diagnosed with EBMD and the left was normal. After slit lamp examination, the corneas were immunostained with anti-β-tubulin III antibody. Images were recorded by a fluorescent microscope equipped with a Photometrics digital camera using MetaVue imaging software. Results: The left cornea appeared normal as observed by slit lamp and stereomicroscope, but the right eye had numerous irregular geographic patches in the basement membrane. Immunofluorescence showed no difference in the stromal nerve distribution between the 2 eyes, but there were areas without innervations in the EBMD cornea. Subbasal nerve fibers also showed tortuous courses and fewer divisions. There was a significant decrease in the density of subbasal nerve fibers and the number of terminals in the right eye. Conclusion: We show for the first time detailed nerve architecture in an EBMD cornea. Our results suggest that EBMD-induced abnormalities of basement membrane altered epithelial nerve architecture and decreased nerve density, contributing to the pathology of the disease.

Wen-Shin Lee, Carson K Lam, Edward E Manche Department of Ophthalmology, Stanford University, Stanford, CA, USA Purpose: The purpose of this study was to evaluate the long-term efficacy of phototherapeutic keratectomy (PTK) in treating epithelial basement membrane dystrophy (EBMD).Methods: Preoperative and postoperative records were reviewed for 58 eyes of 51 patients with >3months follow-up (range 3−170months) treated for EBMD with PTK after failure of conservative medical treatment at Byers Eye Institute of Stanford University. Symptoms, clinical findings, and corrected distance visual acuity (CDVA) were assessed. The primary outcome measure was symptomatic recurrence as measured by erosions or visual complaints >3months after successful PTK.Results: For eyes with visual disturbances (n=30), preoperative CDVA was ~20/32 (0.24 LogMAR, SD 0.21) and postoperative CDVA was ~20/25 (0.07 LogMAR, SD 0.12; P

Purpose: The majority of anterior corneal dystrophies are caused by dominant mutations in TGFBI (transforming growth factor β-induced) collectively known as the epithelial-stromal TGFBI dystrophies. Most cases of epithelial basement membrane dystrophy (EBMD) are thought to result from a degenerative (nongenetic) process; however, a minority of cases are associated with specific TGFBI mutations. We evaluated the spectrum of TGFBI mutations and associated phenotypes in a United Kingdom cohort with typical epithelial-stromal TGFBI dystrophies and an EBMD cohort. Methods: We recruited 68 probands with a clinical diagnosis of epithelial-stromal TGFBI dystrophy and 23 probands with bilateral EBMD. DNA was extracted from peripheral leukocytes, and TGFBI was bi-directly Sanger sequenced. Results: Nine TGFBI mutations were identified. The most common occurred at the mutation hot-spot residues R124 and R555 in 61 probands; these individuals had a genotype-phenotype correlation consistent with prior reports. Four probands with lattice corneal dystrophy carried a mutation in exon 14: p.(A620D), p.(V625D), and p.(H626R). We identified a p.(G623D) mutation in five probands, including two probands from the EBMD cohort. These subjects typically had an onset of severe recurrent corneal epithelial erosion in the fourth decade with mild diffuse or geographic subepithelial corneal opacities and only small anterior stromal lattice structures in older individuals. Symptoms of painful epithelial erosion improved markedly following phototherapeutic keratectomy. Conclusions: There was a strong correlation between genotype and phenotype for the majority of TGFBI mutations. In this cohort, the p.(G623D) mutation caused a greater proportion of TGFBI-associated disease than anticipated, associated with variable phenotypes including individuals diagnosed with EBMD.

Akira Kobayashi, Hideaki Yokogawa, Kazuhisa SugiyamaDepartment of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa, JapanBackground: The purpose of this study was to investigate pathological changes of the corneal cell layer in patients with map-dot-fingerprint (epithelial basement membrane) dystrophy by in vivo laser corneal confocal microscopy.Methods: Two patients were evaluated using a cornea-specific in vivo laser scanning confocal microscope (Heidelberg Retina Tomograph 2 Rostock Cornea Module, HRT 2-RCM). The affected corneal areas of both patients were examined. Image analysis was performed to identify corneal epithelial and stromal deposits correlated with this dystrophy.Results: Variously shaped (linear, multilaminar, curvilinear, ring-shape, geographic) highly reflective materials were observed in the “map” area, mainly in the basal epithelial cell layer. In “fingerprint” lesions, multiple linear and curvilinear hyporeflective lines were observed. Additionally, in the affected corneas, infiltration of possible Langerhans cells and other inflammatory cells was observed as highly reflective Langerhans cell-like or dot images. Finally, needle-shaped materials were observed in one patient.Conclusion: HRT 2-RCM laser confocal microscopy is capable of identifying corneal microstructural changes related to map-dot-fingerprint corneal dystrophy in vivo. The technique may be useful in elucidating the pathogenesis and natural course of map-dot-fingerprint corneal dystrophy and other similar basement membrane abnormalities.Keywords: cornea, confocal microscopy, map-dot-fingerprint dystrophy, epithelial basement membrane dystrophy, Heidelberg Retina Tomograph 2 Rostock Cornea Module (HRT 2-RCM)

Purpose To ascertain the effects of aging on corneal morphology and to illustrate the morphologic diversity of the different layers in the normal cornea as seen by in vivo confocal microscopy (IVCM). Design Observational cross-sectional study. Participants A total of 150 healthy subjects, evenly distributed over 5 age categories, comprising 75 men and 75 women. Methods Both transparent corneas (n = 300) of all subjects were examined in duplicate by white light IVCM (Confoscan 4, NIDEK Technologies, Albignasego, Padova, Italy). After reviewing the IVCM examinations for morphologic variations of the corneal layers, we selected the 8 most common features to illustrate the morphologic diversity. Subsequently, all 600 IVCM examinations were assessed for the presence of these features. We used binary logistic regression analyses to assess the age-relatedness of each feature. Main Outcome Measures Age distribution of bright superficial epithelial cells, dendriform cells, alterations characteristic of epithelial basement membrane dystrophy (EBMD), tortuous stromal nerves, stromal microdots in the anterior stroma, folds in the posterior stroma, opacification of Descemet's membrane, and corneal guttae. Results Four features were found characteristic of the aging cornea: stromal microdots in the anterior stroma ( P P P P P = 0.09). Other features, such as bright superficial epithelial cells (n = 38, 13%), dendriform cells (n = 42, 14%), and tortuous stromal nerves (n = 115, 38%), were age-independent. We also found a novel phenotype of corneal endothelium in 4 normal eyes of 2 subjects, which we coined "salt and pepper endothelium." We could not establish whether this novel phenotype represented a morphologic variant of normal endothelium, an early stage of a known corneal endothelial disorder, or a completely new disease entity. Conclusions Knowledge of the common morphologic variations of the corneal layers and the effects of aging on corneal morphology as seen by IVCM increases our understanding of corneal degenerative disorders and is essential to detect corneal pathology. Our finding of a novel phenotype of corneal endothelium emphasizes the morphologic diversity of this optically transparent tissue. Financial Disclosure(s) The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Objective To evaluate the outcome of phototherapeutic keratectomy (PTK) treatment of epithelial basement membrane dystrophy (EBMD) patients and to examine clinical and morphologic signs of recurrent dystrophy. Design Cross-sectional, clinic-based study. Participants Fifty-two eyes of 39 patients diagnosed with EBMD who underwent PTK between 2001 and 2008. Methods Preoperative symptoms, best spectacle-corrected visual acuity (BSCVA), and refraction data were collected. At follow-up, refraction and BSCVA were measured, symptoms were noted, and slit-lamp biomicroscopy and in vivo confocal microscopy (IVCM) were performed. Main Outcome Measures Best spectacle-corrected visual acuity and signs of recurrent EBMD based on symptoms and morphologic features. An assessment of EBMD severity after PTK additionally was considered. Results Mean follow-up time was 43 months (range, 7–100 months). After PTK, BSCVA remained unchanged or improved in 49 (98%) of 51 eyes. Twenty-four (46%) of 52 eyes had recurrence of some form, and recurrence was correlated positively with postoperative time ( P Conclusions Although PTK is an effective method of alleviating the clinical symptoms of EBMD, the dystrophy can recur with time. The relationship between the postoperative development of clinical symptoms and the corneal morphologic features is complex and requires further investigation. Financial Disclosure(s) The author(s) have no proprietary or commercial interest in any materials discussed in this article.

To describe a patient with a history of epithelial basement membrane dystrophy who developed symptomatic corneal verticillata after vandetanib therapy for anaplastic astrocytoma.Retrospective interventional case report.A 48-year-old female patient with a history of anaplastic astrocytoma status post resection, external beam radiation, and chemotherapy presented with glare symptoms, decreased contrast sensitivity, and increased lacrimation after approximately 12 months of therapy with the anti-epidermal growth factor receptor (EGFR) and anti-vascular endothelial growth factor receptor 2 protein tyrosine kinase inhibitor, vandetanib. Ophthalmic examination revealed diffuse corneal verticillata and fine subepithelial opacities. Schirmer 1 testing was normal bilaterally. Therapy with carboxymethylcellulose, 5% sodium chloride ointment, and a decrease in the dose of vandetanib led to an improvement in the patient's ophthalmic symptoms despite persistence of the corneal findings. The patient remained under surveillance for tumor recurrence.Vandetanib (ZD6474), a protein tyrosine kinase inhibitor with dual anti-EGFR and anti-vascular endothelial growth factor receptor 2 action, may have contributed to the formation of corneal verticillata in our patient. Inhibition of EGFR, which is involved with corneal epithelial cell migration and wound healing, may play a role in the pathogenesis underlying corneal vortex keratopathy and ocular surface conditions with significant epithelial turnover.

PURPOSE To report a rare case of bilateral and symmetric Meesmann corneal dystrophy concurrent with bilateral epithelial basement membrane dystrophy and bilateral but asymmetric posterior polymorphous corneal dystrophy in a patient of Armenian origin. METHODS Complete ophthalmologic examination was performed on a 6-year-old boy from Armenia who was diagnosed with bilateral symmetric Meesmann corneal dystrophy combined with bilateral epithelial basement membrane dystrophy and bilateral but asymmetric posterior polymorphous corneal dystrophy. This case was observed and treated for 24 years. RESULTS On slit-lamp biomicroscopy, the patient showed bilateral multiple intraepithelial cystic lesions, bilateral irregularly shaped grayish-white opacities in the superficial corneal epithelium, and bilateral but asymmetric transparent vesicles surrounded by gray halos at the level of the Descemet membrane and the endothelium. CONCLUSIONS This case is reported because of the unusual occurrence of Meesmann corneal dystrophy with other corneal dystrophies.

Purpose Autosomal dominant mutations in TGFBI cause a range of clinically distinct corneal dystrophies. We investigated the TGFBI mutation spectrum in our cohort and correlated genotype with phenotype. Methods TGFBI exons 4, 11, 12, 13, 14 and 16 were Sanger sequenced in 59 unrelated probands attending Moorfields Eye Hospital with a diagnosis of a potential TGBFI-associated corneal dystrophy. Results The majority of individuals, 86%, carried a mutation at one of the two known hotspot residues for TGFBI-associated corneal dystrophies: Arg-124 and Arg-555. Mutations affecting either of these residues demonstrated genotype-phenotype correlation. A c.1868G>A; p.(Gly623Asp) mutation was identified in five unrelated probands; one with a clinical diagnosis of lattice corneal dystrophy, two with a Bowman's layer dystrophy (Reis-Bϋcklers or Thiel-Behnke corneal dystrophy) and two with epithelial basement membrane dystrophy (EBMD). The clinical variability associated with this mutation indicates that other genetic or environmental factors can influence phenotypic expression. Conclusions This is the first time the c.1868G>A; p.(Gly623Asp) mutation has been associated with EBMD, although other mutations in TGFBI have previously been identified in a small number of EBMD patients. These results demonstrate that the c.1868G>A; p.(Gly623Asp) mutation is responsible for a significant proportion of the disease burden for TGFBI-associated corneal dystrophies in the UK and highlights the need for patients with EBMD to be screened for mutations in TGFBI.

Purpose.To compare anterior eye segment measurements and morphology obtained with two optical coherence tomography systems (TD OCT, SS OCT) in eyes with corneal dystrophies (CDs).Methods. Fifty healthy volunteers (50 eyes) and 54 patients (96 eyes) diagnosed with CD (epithelial basement membrane dystrophy, EBMD = 12 eyes; Thiel-Behnke CD = 6 eyes; lattice CD TGFBI type = 15 eyes; granular CD type 1 = 7 eyes, granular CD type 2 = 2 eyes; macular CD = 23 eyes; and Fuchs endothelial CD = 31 eyes) were recruited for the study. Automated and manual central corneal thickness (aCCT, mCCT), anterior chamber depth (ACD), and nasal and temporal trabecular iris angle (nTIA, tTIA) were measured and compared with Bland-Altman plots.Results.Good agreement between the TD and SS OCT measurements was demonstrated for mCCT and aCCT in normal individuals and for mCCT in the CDs group. The ACD, nTIA, and tTIA measurements differed significantly in both groups. TBCD, LCD, and FECD caused increased CCT. MCD caused significant corneal thinning. FECD affected all analyzed parameters.Conclusions.Better agreement between SS OCT and TD OCT measurements was demonstrated in normal individuals compared to the CDs group. OCT provides comprehensive corneal deposits analysis and demonstrates the association of CD with CCT, ACD, and TIA measurements.

Purpose To describe corneal changes in patients with epithelial basement membrane dystrophy (EBMD) using a new in vivo confocal microscope. Design Observational case series. Methods A retrospective chart review of 22 consecutive patients with EBMD at the Quinze-Vingts National Ophthalmology Hospital from April 2004 to March 2005 was conducted. Gender, age, history of painful episodes suggestive of recurrent erosions, best-corrected visual acuity, slit lamp findings, and in vivo confocal microscopy images were analyzed. Results There were 8 male (36.4%) and 14 female (63.6%) subjects. Eighteen patients (81.2%) had a history of recurrent erosions in 1 or in both eyes. In 37 eyes of 19 patients (86.4%), map and/or dot and/or fingerprint changes were observed biomicroscopically. In 3 patients (13.6%) with recurrent erosions, the cornea had a normal structure on slit lamp examination and the diagnosis of EBMD was made after in vivo confocal microscopy examination. Four patients (18%), despite basement membrane abnormalities, reported no corneal symptoms suggesting recurrent erosions. In vivo confocal microscopy images showed that all patients had an abnormal epithelial basement membrane protruding into the corneal epithelium, epithelial cell abnormalities, and microcysts. No abnormalities were observed in superficial epithelial cells or the stroma. Conclusion Epithelial basement membrane dystrophy is characterized by an abnormal basement membrane protruding toward the epithelium and epithelial microcysts. In vivo confocal microscopy using the HRT II Rostock Cornea Module provides better resolution and therefore outlines distinctively in vivo microstructural characteristics of EBMD. It assists in the diagnosis of EBMD in patients suffering from recurrent erosion syndrome, particularly in patients with no corneal change visible biomicroscopically.

Purpose To report the occurrence of large intraoperative epithelial sloughing during laser in situ keratomileusis (LASIK) as a first diagnostic sign for silent epithelial basement membrane dystrophy (EBMD). Setting Refractive Surgery and Cornea Unit, Alicante Institute of Ophthalmology, Alicante, Spain. Methods In this retrospective case series, the medical records of all patients with large corneal epithelial sloughing/defects during LASIK from January 1995 to December 2004 were reviewed. All patients who presented normal corneas before LASIK and EBMD changes after LASIK were included in this study. The surgical procedures and postoperative course were recorded. The follow-up period was 12 months for all patients. Results Eleven eyes of 6 patients were included. The mean age was 35 years ± 6.1 (SD). Mean preoperative uncorrected visual acuity (UCVA) was 20/500 (0.04 ± 0.02); 12 months after surgery, mean UCVA increased to 20/27 (0.74 ± 0.21). There was a significant decrease in best spectacle-corrected visual acuity 1 month after surgery. One year postoperatively, 10 of 11 eyes (91%) were within ±1.00 diopter of emmetropia. Postoperatively, clinical manifestations of EBMD were observed in all eyes and complications were common. In the early postoperative period, diffuse lamellar keratitis was observed in 6 of 11 eyes (54.5%) and flap microfolds were noted in 2 of 11 (18.2%). One year after surgery, epithelial ingrowth was present in 8 of 11 eyes (72.7%) and flap melting was noted in 4 of 11 (36.4%). Conclusion Occurrence of large intraoperative epithelium sloughing/defects during LASIK might be a diagnostic sign for subclinical EBMD. These patients are predisposed to multiple postoperative complications. Because of the high risk for epithelial sloughing in the second eye, LASIK should not be performed.

Epithelial ingrowth at the edge of the flap is one of the most significant complications of LASIK. Reports of the incidence of epithelial ingrowth have ranged from 0 to 20 % [1–4]. It usually presents in the early postoperative period and is known to be associated with loose epithelium, epithelial defects at the time of surgery, hyperopic LASIK correction, enhancement surgeries, flap instability, and corneal epithelial basement membrane dystrophy [1, 3–5]. While not always serious, it can progress to induce irregular astigmatism or melting of the overlying flap and threaten the central vision.

Epithelial basement membrane dystrophy (EBMD) is the most common corneal dystrophy, with an estimated prevalence of 5 %. However, it is often undiagnosed because it has nonspecific symptoms [1]. The pathogenesis of EBMD involves primary synthesis of an abnormal epithelial basement membrane with intraepithelial extensions. The absence of anchoring fibrils in patients with EBMD leads to a poorly adherent epithelium and increased risk for recurrent corneal erosion (RCE). It also increases risk of a perforated flap during cutting and of diffuse lamellar keratitis (DLK) [2].

In pursuance of the IC3D classification the group of the anterior corneal dystrophies include: Epithelial and Subepithelial Dystrophies: (( Epithelial basement membrane dystrophy (EBMD)—majority degenerative, some C1; Epithelial recurrent erosion dystrophy (ERED) C4, (Smolandiensis variant) C3;Subepithelial mucinous corneal dystrophy (SMCD) C4; Mutation in keratin genes: Meesmann corneal dystrophy (MECD) C1; Lisch epithelial corneal dystrophy (LECD) C2; Gelatinous drop-like corneal dystrophy (GDLD) C10 and Bowman Layer Dystrophies: (( Reis–Bucklers corneal dystrophy (RBCD)—Granular corneal dystrophy type 3 C1;Thiel–Behnke corneal dystrophy (TBCD) C1, potential variant C2; Grayson –Wilbrandt corneal dystrophy (GWCD) C4). Foregoing course summarizes genetic background, invasive examination (histological, confocal) and non invasive modern visualization techniques such as AS SOCT. Above lecture will also assume clinical approach.

Background. Epithelial basement membrane dystrophy (EBMD) is a common disease of the anterior cornea that can lead to problems with vision and/or painful recurrent erosions of the corneal epitheliu ...

Epithelial basement membrane dystrophy, the most common hereditary anterior corneal dystrophy and considered a "category 1" dystrophy in some cases, encompasses microcystic dystrophy and other conditions affecting the epithelial basement membrane. The management of symptomatic epithelial basement membrane dystrophy includes alleviating blurred vision, treating recurrent corneal erosion, or both. Treatment of distorted vision may be as simple as prescribing lubricating drops and/or ointment, and posttrauma corneal erosion is often a limited problem that disappears over time and does not require laser or surgical treatment. This article describes treatment for more severe cases of corneal erosion, which includes mechanical debridement of the loosened epithelium.

PURPOSE: To report sloughing of corneal epithelium during laser in situ keratomileusis and subsequent wound healing complications in patients with epithelial basement membrane dystrophy. METHODS: In a retrospective study, the surgical procedures, postoperative course, and visual acuities of 16 eyes of nine patients with epithelial basement membrane dystrophy who underwent laser in situ keratomileusis complicated with epithelial sloughing at three centers were reviewed. The mean follow-up period was 23 weeks (range, 4 to 52 weeks). RESULTS: In 13 (81%) of 16 eyes with epithelial basement membrane dystrophy, epithelial sloughing occurred during laser in situ keratomileusis. In eight of the 13 eyes, epithelial growth beneath the flap was observed. The flap was lifted and the interface epithelium scraped in six eyes. Flap melt or keratolysis occurred in four eyes. At the last follow-up visit, 13 of 16 eyes had an uncorrected visual acuity of 20/30 or better, and all eyes had a best-corrected visual acuity of 20/30 or better. CONCLUSIONS: Patients with epithelial basement membrane dystrophy have poorly adherent corneal epithelium and are predisposed to epithelial sloughing during the microkeratome pass of laser in situ keratomileusis. This may lead to flap distortion, interface epithelial growth, flap keratolysis, and corneal scarring. It is not recommended that laser in situ keratomileusis be performed in patients with classic, symptomatic epithelial basement membrane dystrophy. In patients who present with mild and asymptomatic epithelial basement membrane dystrophy, laser in situ keratomileusis should be performed with caution, or photorefractive keratectomy may be the preferred refractive procedure.

Objective To characterize morphologic changes in corneas of patients with recurrent erosion syndrome or epithelial basement membrane dystrophy using in vivo confocal microscopy. Design Observational case series Participants Fourteen eyes of eight patients with diagnosed epithelial basement membrane dystrophy and 13 eyes of seven patients with recurrent erosion syndrome were examined. Methods Slit-lamp examination and in vivo confocal microscopy. The pathologic findings are presented as digitized images obtained from video tape recorded during the confocal microscopy. Main outcome measures The morphology of corneal surface epithelial cells, basal epithelial cells, subbasal nerve plexus, Bowman's layer, stromal keratocytes, and endothelium was analyzed. Results The surface epithelium was intact in all but two eyes. One cornea (a basement membrane disorder with clinically visible dots) had multinucleate surface epithelial cells, and one eye with recurrent corneal erosions showed a freely floating surface epithelium sheet in the tear fluid. Patients in both groups showed islets of highly reflective cells with presumed intracellular deposits surrounded by normal cells in the basal epithelial cell layer. The basal epithelial cell area also showed other pathologic changes, including drop-shaped configurations, streaks, or ridges. Folding of the Bowman's layer was also observed in both groups. Anterior keratocytes showed signs of activation (highly reflective nuclei with visible processes) in some of the patients regardless of the clinical diagnosis, and in recurrent erosions even increased deposition of abnormal extracellular matrix in the anterior stroma was suspected. Posterior corneal keratocytes and endothelium appeared normal when examined. The subbasal nerve plexus showed various pathologic changes, such as short or strangely shaped nerve fiber bundles, decreased numbers of long nerve fiber bundles, only faintly visible long nerve fiber bundles (instead of the normally observed long parallel running interconnected bundles), or increased amounts of Langerhans cells, but only one patient (with recurrent erosion syndrome) lacked the subbasal nerve plexus. Conclusions In vivo confocal microscopy of corneas with recurrent erosions or epithelial basement membrane dystrophy showed deposits in basal epithelial cells, subbasal microfolds and streaks, damaged subbasal nerves, or altered morphology of the anterior stroma. Confocal microscopy cannot replace biomicroscopy in making a specific diagnosis, but it sometimes helps the diagnosis in corneas that appear normal under a biomicroscope.

Purpose: To report a case of excimer laser photorefractive keratectomy (PRK) in a patient with epithelial basement membrane dystrophy (EBMD). Methods: Interventional case report. Results: A 36-year-old male with clinical manifestations of EBMD underwent bilateral, simultaneous PRK for low myopia correction. A delay (up to 17 days) in the epithelial healing process with unstable epithelium was observed. During the first three postoperative months a visually significant subepithelial haze was developed in both eyes. One year postoperative, an improvement in haze formation and visual acuity in both eyes was found. Conclusions: PRK in patients with EBMD could result in favorable refractive and clinical outcome.

Objective This study aimed to describe the morphology of cystic disorders of the corneal epithelium by confocal microscopy. Design The study design was a prospective evaluation of confocal microscopic images of patients with cystic corneal disorders. Participants Thirteen patients (19 eyes) were included. The corneal disorders included four patients with corneal decompensation (Fuchs’ dystrophy), five patients with epithelial basement membrane dystrophy (e.g., Cogan’s microcystic and map-dot dystrophies), one patient with Meesmann’s dystrophy, and three patients with recurrent erosion syndrome of unknown etiology. Confocal images of diseased comeas were compared with those of ten normal control eyes (ten subjects). Intervention All patients were examined by slit-lamp biomicroscopic analysis and confocal microscopic analysis (Tomey, Erlangen-Temmenlohe, Germany). Image analysis was used to identify the corneal epithelial structures correlated with the corresponding pathology. Main outcomes measures Confocal microscopy was used to assess the size, shape, light scatter, and reflection of the cysts. Results Slit-lamp examination results showed corneal epithelial cystic lesions in all cases. Confocal microscopy was able to identify cystic lesions in 9 (69.2%) of 13 patients. Of the four patients in whom lesions could not be found by confocal microscopy, three had recurrent erosion syndrome and the other one had epithelial basement membrane dystrophy. The confocal images were compatible with the clinical and histologic pictures of the disease. Normal control eyes did not show any epithelial lesion, either by biomicroscopy or confocal microscopy. Conclusions Confocal microscopy provides an in vivo evaluation of cystic epithelial corneal lesions. This study shows that confocal microscopy is suitable for examining cystic lesions of the corneal epithelium. Nevertheless, it is not as sensitive as biomicroscopy in detecting cystic lesions in certain corneal conditions.

Background. Epithelial basement membrane dystrophy (EBMD) is a common disease of the anterior cornea that can lead to problems with vision and/or painful recurrent erosions of the corneal epithelium. Several treatment options have been used, but recurrence of EBMD after treatment is a problem. Excimer laser phototherapeutic keratectomy (PTK) has become an increasingly popular surgical option in recent years due to its accuracy, reproducibility, and good clinical outcomes. When treating EBMD with PTK, the anterior corneal structures including the epithelium, Bowman´s layer (BL), and subbasal nerves are disrupted or removed completely. Little is known about how BL, nerves, and the stroma recover after PTK treatment, or how they could influence recurrence of EBMD symptoms. Additionally, very little is known about the properties and actual thickness of BL in-vivo.Aims. To improve the understanding and management of EBMD by investigating the clinical diagnosis and treatment of EBMD and its relationship to Bowman´s layer.Method. An excimer laser was used to treat EBMD patients at the Department of Ophthalmology during the period 2001-2010. IVCM was used to perform pre- and postoperative examinations. In particular, images of anterior corneal structures, cells, and nerves in high-resolution were obtained. Additionally, a group of over 100 healthy volunteers underwent a full ophthalmic examination including IVCM. Other subjects examined in this work included a group of 17 patients who underwent full-thickness transplantation of the cornea.Results and conclusions. Clinical follow-up revealed that PTK is an effective method of alleviating the clinical symptoms of EBMD, but the dystrophy can recur with time. Recurrence can be divided into clinical and morphologic types, and may depend upon treatment parameters including the type and depth of ablation. IVCM was found to be a useful screening tool pre- and postoperatively, and could prevent patients with symptoms, but no visible signs of EBMD on slit lamp examination, to go undiagnosed and untreated. BL was found to play a role in regenerative wound healing after PTK, and was also found to be important regarding the treatment and recurrence of EBMD. BL may present a physical barrier that protects the subepithelial nerve plexus thereby facilitating sensory recovery, and BL may also serve as a barrier that prevents direct traumatic contact with the corneal stroma, avoiding a stromal wound healing response. To aid in accurate assessment of BL in patients, an in vivo method for determining BL thickness was developed. This method could be an important tool to aid in clinical assessment and planned treatments of the anterior cornea. Using this tool, a large inter-individual variability in BL thickness and a strong negative correlation of BL thickness with age were found in a healthy population. Using IVCM, it was also found that subbasal nerves are pathologically reduced in EBMD compared to a healthy population, and that this nerve deficit does not improve in the long term after PTK treatment.

One hundred and seventeen patients with a history of recurrent corneal erosion were recruited at initial hospital presentation. Seventy-five cases had a history of shallow corneal injury, 23 had epithelial basement membrane dystrophy (EBMD), 8 had both and 11 had neither. Mean age at presentation was 38 years and follow-up ranged from 6 to 16 months (mean 10.6 months). Sixty-one patients presented with a first acute corneal erosion, 21 with a subsequent acute corneal erosion and 35 with chronic symptoms. Patients with EBMD or a trauma-related focal epithelial basement membrane abnormality were more likely to present with chronic recurrent symptoms than trauma-related cases with no abnormality on examination. Both EBMD and trauma-related cases typically recurred in the lower half of the cornea, frequently in the midline (z = 7.3, p < 0.0001), suggesting an intrinsic or acquired abnormality of the epithelial basement membrane at this site. Only four of 82 acute episodes did not resolve by 5 days with simple patching, cycloplegia and topical antibiotic ointment. In the vast majority of patients presenting with an acute erosion, simple management measures only are required. Of 117 cases started on prophylactic ointment at night, further therapy due to prophylaxis failure was required in only 5. EBMD was a risk factor for failure (relative risk 10.77). There was no difference in efficacy between once daily prophylactic paraffin and hypertonic saline ointments (p = 0.17), suggesting they both have only a lubricant action.

PURPOSE To report the confocal microscopic appearance of bleb-like disorder in epithelial basement membrane dystrophy (EBMD). METHODS Two subjects with bleb-like disorder in EBMD were examined with slit-lamp biomicroscopy and in vivo confocal microscopy using the Heidelberg Retina Tomograph II/Rostock Cornea Module. A sample obtained from epithelial debridement from 1 subject provided histologic correlation. RESULTS Confocal microscopy showed areas of circular and irregular hyporeflectivity ranging from 30 to 150 μm in diameter at the level of the basal epithelium and Bowman layer, with apparent fragmentation of the subbasal nerve plexus. The stroma, Descemet membrane, and corneal endothelium appeared normal. The epithelial biopsy results revealed subepithelial deposits of material anterior to the Bowman layer that stained positively with periodic acid-Schiff (PAS). CONCLUSIONS This clinicopathologic correlation of bleb-like disorder in EBMD using confocal microscopy demonstrates the distinctive morphology of this disorder. It provides additional information to help with the interpretation of confocal images.

To report the utility of epithelial debridement and diamond burr polishing of Bowman's layer (ED + DBP) in the management of recurrent corneal erosions and visually significant epithelial irregularity associated with epithelial basement membrane dystrophy (EBMD).Retrospective interventional consecutive case series.All patients who underwent ED + DBP by a single surgeon between November 1, 2002 and November 1, 2008.Data were collected regarding the frequency and severity of symptoms associated with EBMD as well as previous treatments. Details regarding the procedure and the postoperative course were recorded as well. The significance of the improvement in visual acuity after treatment was determined using Wilcoxon signed rank test.Change in visual acuity and recurrent corneal erosions after treatment.ED + DBP was performed on 56 eyes (42 patients) during the 72-month period under review. Of the 56 eyes, 37 (66%) were treated for recurrent corneal erosions and 22 (39%) were treated for visually significant epithelial irregularity (3 eyes were treated for both conditions). EBMD was diagnosed in 46 eyes (82%), and a history of corneal trauma was elicited in 9 eyes (16%). Visual acuity improved significantly (P = 0.016), and recurrent corneal erosions resolved after treatment in 24 (96%) of the 25 eyes with a history of corneal erosions before treatment with more than 3 months of follow-up (average, 18.9 months; range, 3.5-66.5 months). Visual acuity improved significantly (P = 0.004), and visual aberrations related to epithelial irregularity resolved in all 14 eyes treated for visually significant EBMD with more than 3 months of follow-up (average, 14.2 months; range, 3.4-50.8 months). Mild, central subepithelial corneal haze developed in 12 (26%) of the 47 eyes that did not demonstrate subepithelial haze before ED + DBP, although it was not associated with decreased vision at the last follow-up visit in any patient.ED + DBP is a safe and effective technique in the management of recurrent corneal erosions and visually significant epithelial irregularity associated with EBMD.

PURPOSE. To evaluate the corneal characteristics of patients with epithelial basement membrane dystrophy (EBMD) using an in vivo laser confocal microscope, Heidelberg Retina Tomograph II, Rostock Cornea Module (HRT II RCM). METHODS. Sixteen women and 13 men who were diagnosed with or suspected to have EBMD were included in the study. The mean age of the patients was 56.4±17.2 years within a range of 25 to 81 years. Nine patients (31%) had a history of recurrent corneal erosions and 3 patients had been misdiagnosed with herpetic epithelial keratitis. The remaining 17 patients were asymptomatic and EBMD was diagnosed incidentally during routine eye examinations. RESULTS. Confocal microscopy revealed highly reflective tissue in various configurations within the intermediate and basal epithelial cell layers corresponding to the abnormal basement membrane extending into the epithelium. There were thin, parallel hyperreflective lines and high contrast round lesions in sizes ranging between 10 and 250 µm within the epithelium. Basal epithelial cells around the abnormal basement membrane and cysts seemed to be highly distorted. In two subjects with bleb-like disorder, the authors observed circular or oval hyporeflective areas with a diameter ranging between 40 and 100 µm at the level of basal epithelium and the Bowman layer, accompanied by hyperreflective, linear structures extending into the epithelium. CONCLUSIONS. EBMD is most commonly asymptomatic and undiagnosed; however, it might be associated with recurrent corneal erosions and lead to severe complications after LASIK surgery. The confocal images are highly characteristic for EBMD; therefore, confocal microscopy seems to be a valuable tool in the diagnosis of EBMD. (Eur J Ophthalmol 2009; 19: 348-54)

Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes call Cause a single phenotype, whereas different defects in a single gene can Cause different phenotypes. Sonic disorders termed corneal dystrophies do not appear to have a genetic basis. Purpose: The purpose Of this Study was to develop a new classification system for corneal dystrophies, integrating up-to-date information on phenotypic description, pathologic examination, and genetic analysis. Methods: The International Committee for Classification of Corneal Dystrophies (IC3D) was created to devise a current and accurate nomenclature. Results: This anatomic classification continues to Organize dystrophies according to the level chiefly affected. Each dystrophy has a template summarizing genetic, clinical, and pathologic information. A category number from I through 4 is assigned, reflecting the level of evidence supporting the existence of a given dystrophy. The most defined dystrophies belong to category 1 (a well-defined corneal dystrophy in which a gene has been mapped and identified and specific imitations are known) and the least defined belong to category 4 (a suspected dystrophy where the clinical and genetic evidence is not yet convincing). The nomenclature may be updated over time as new information regarding the dystrophies becomes available. Conclusions: The IC3D Classification of Corneal Dystrophies is a new classification system that incorporates many aspects of the traditional definitions of corneal dystrophies with new genetic, clinical, and pathologic information. Standardized templates provide key information that includes a level of evidence for there being a corneal dystrophy. The system is User-friendly and upgradeable and call be retrieved on the website www.corneasociety.org/ic3d.

Purpose To investigate the features of corneal epithelial basement membrane dystrophy using spectral-domain optical coherence tomography (SD OCT) and to examine the reliability of SD OCT in distinguishing epithelial basement membrane dystrophy from the normal cornea. Design Diagnostic test study. Methods Forty-five individuals with epithelial basement membrane dystrophy and 45 age- and sex-matched controls with normal corneas were examined, and SD OCT scans of their corneas were performed. In vivo confocal microscopy was performed to confirm or rule out the diagnosis of epithelial basement membrane dystrophy. The structural corneal changes occurring in eyes with epithelial basement membrane dystrophy based on SD OCT findings were described. Results Epithelial abnormalities were observed in 86 of 87 eyes with epithelial basement membrane dystrophy (45 patients) on SD OCT scans. The 2 main features were the presence of an irregular and thickened epithelial basement membrane duplicating or insinuating into the corneal epithelium layer, or both, and the presence of hyperreflective dots. In some cases, we detected hyporeflective spaces between the corneal epithelial layer and the Bowman layer similar to a corneal epithelial detachment. This corneal epithelial detachment sometimes was associated with a cleavage with a stair-step appearance within the corneal epithelial layer. We found a perfect correlation between in vivo confocal microscopy and SD OCT findings in the diagnosis of epithelial basement membrane dystrophy (κ = 0.98). Conclusions SD OCT provides an accurate assessment of the structural changes occurring in eyes with epithelial basement membrane dystrophy. These changes, visible on SD OCT scans, are easily detectable and permit an accurate diagnosis, especially in patients with no biomicroscopically visible corneal changes.