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A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 ( CHST6 ) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: To assess the relationship between diabetic retinopathy (DR) and corneal sensitivity., Methods: In this prospective study, 100 eyes of 50 patients from primarily underrepresented racial and ethnic backgrounds with DR underwent assessment of corneal sensitivity using a Cochet-Bonnet esthesiometer. Severity of DR was graded by a masked reading center. Corneal sensitivity was compared in eyes with current or regressed proliferative DR (PDR) (n=35) and eyes with nonproliferative DR (NPDR) with no history of PDR (n=65). Corneal sensitivity in eyes that regressed from PDR to NPDR with anti-vascular endothelial growth factor (anti-VEGF) therapy (n=7) was compared to treatment-naïve eyes with no current or prior PDR (n=55) and to eyes with newly diagnosed, treatment-naïve PDR (n=12)., Results: In eyes with current or prior PDR, the median corneal sensitivity (average of 4 quadrants) was 0.5 cm (interquartile range [IQR] 0-3.375), whereas in eyes with no current or prior PDR, the median corneal sensitivity was 4.75 cm (IQR 2.0-6.0, P < .0001). The median corneal sensitivity in eyes with regressed PDR was 0 cm (IQR 0-0.875), significantly lower than eyes with no current or prior PDR (4.5 cm, IQR 4.0, P = .0076) and no different than eyes with untreated PDR (0 cm, IQR 1.25). The odds of eyes with DR severity scale score ≥60 having complete corneal sensitivity loss was 3.6 times that of eyes with NPDR., Conclusions: Corneal sensitivity is impaired in eyes with PDR compared to NPDR and is not rescued by anti-VEGF therapy. Assessment of corneal sensitivity in eyes with DR may identify patients at risk for additional complications, including neurotrophic keratopathy. NOTE: Publication of this article is sponsored by the American Ophthalmological Society., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Adequate visual acuity significantly contributes to the age-appropriate development of children's neurobehavior. Infantile corneal opacities are rare but implicate a high potential for amblyopia., Objective: This review aims to provide an overview of the most common causes of infantile corneal opacities and highlights ophthalmopathological correlations., Methods: The following review is based on an extensive literature search., Results: If metabolic diseases, traumatic or infectious events can be excluded as a cause for an infantile corneal opacity, it is important to focus on the 3Ds, corneal dysgenesis, corneal dystrophy or corneal degeneration., Discussion: If corneal opacities occur in childhood, early recognition, diagnosis, and initiation of treatment, including prophylaxis of amblyopia, are of utmost importance. In unexplained corneal opacities the histopathological work-up of the explanted cornea can contribute to the final diagnosis., (© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Background and Objective: Alport syndrome (AS) is a rare hereditary systemic disease that results in alterations of the kidneys, inner ear, and various structures of the eye. It is caused by mutations in one of the genes encoding collagen type IV. In recent years, new and innovative imaging techniques have added characteristics of ocular alterations in AS and provided new insights, including into the pathogenesis of the disease. The aim of this paper is to provide an overview of the current knowledge of ocular changes in AS, as well as to present the Alport ocular pass., Method: Narrative review article., Results: Ocular manifestations of AS include changes in the cornea, lens, and retina. Specifically, posterior polymorphic corneal dystrophy, anterior lenticonus (pathognomonic for AS), and various retinal changes have been described, which have been further characterized in recent years by newer imaging techniques. In particular, foveal changes in AS may present as both a thickened central retina in the context of foveal hypoplasia or a staircase-like thinning of the fovea. Both lesions could provide further insights into the role of type IV collagen in ocular structures., Conclusion: The AS can manifest in various structures of the eye. The staircase-like changes of the central retina in AS patients indicate the important role of collagen type IV in the homeostasis and regular function of the inner retinal layers. The often mild foveal hypoplasia may provide clues to the role of collagen type IV in retinal embryogenesis. While anterior lenticonus is pathognomonic for AS and can be treated easily by refractive lens exchange, the only option currently available for retinal alterations is close follow-up and, if necessary, treatment of systemic complications of AS., (© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Competing Interests: The authors declare that they have no conflict of interest.

Purpose: The aim of this study was to describe the clinical presentation and multimodal imaging of a patient diagnosed with infectious crystalline keratitis (ICK) secondary to Mycobacterium chelonae ., Methods: This is a case report of a patient with a crystalline corneal infiltrate imaged with anterior segment optical coherence tomography and in vivo scanning laser confocal microscopy. Bacterial, fungal, acanthamoeba, and acid-fast cultures were performed to identify the causal pathogen., Results: Examination revealed a white stellate opacity in the midstroma underlying the scalloped border of an area of central corneal stromal thinning, consistent with a diagnosis of ICK. Anterior segment optical coherence tomography demonstrated a hyperreflective diamond-shaped opacity located at a depth of 334 μm, which demonstrated multiple stellate projections on in vivo scanning laser confocal microscopy. The acid-fast culture was positive for Mycobacterium chelonae ., Conclusions: Although ICK is most commonly associated with Streptococcus species, it may be secondary to atypical bacteria including Mycobacterium species, underscoring the importance of diagnostic imaging and collecting corneal cultures to identify the pathogenic organism., Competing Interests: The authors have no funding or conflicts of interest to disclose., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: The aim of this study was to describe risk factors for neurotrophic keratopathy (NK) after herpes zoster ophthalmicus (HZO)., Methods: This study was a retrospective review of all patients seen at the Auckland District Health Board with HZO from 2006 through 2016. Cox proportional hazards analysis was performed to examine time to development of neurotrophic keratitis., Results: Eight hundred sixty-nine patients were included in the study with a median follow-up of 6.3 years (5504.4 patient-years). The median age was 65.5 years (interquartile range 52.9-75.4), and 456 subjects (52.5%) were male. NK developed in 58 patients (6.7%), with the highest hazard 1 to 2 years after onset of HZO. On univariate analysis, age, White ethnicity, best-corrected visual acuity (BCVA) at presentation, intraocular pressure, corneal involvement, uveitis, and number of recurrences were associated with increased risk of NK. On multivariate analysis, the following factors were significant: age (hazard ratio [HR] = 1.03; P = 0.021), White ethnicity (HR = 3.18; P = 0.015), BCVA (HR = 1.81; P = 0.026), uveitis (HR = 3.77; P = 0.001), and recurrence (HR = 1.34; P < 0.001). Vision loss (BCVA ≤6/15) was more frequent in subjects with NK (65.5% vs. 16.3%, P < 0.001)., Conclusions: NK is a relatively common and serious complication of HZO and occurs more frequently in older White individuals, those with poor visual acuity at presentation, and those with uveitis. Vision loss occurs in approximately two-thirds of patients., Competing Interests: The authors have no funding or conflicts of interest to disclose., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: To determine the prevalence, clinical characteristics, and risk factors associated with neurotrophic keratopathy (NK) in patients with chronic ocular graft-versus-host disease (oGVHD)., Design: Retrospective cohort study., Methods: We performed a chart review of patients diagnosed with chronic oGVHD between January 2015 and December 2018 at a single academic institution and recorded demographic data, systemic and ocular comorbidities, history of hematologic malignancy, transplant characteristics, oGVHD severity scores, and adnexal and ocular examination findings. We determined the prevalence of NK and clinical characteristics associated with NK in these patients. A multivariate logistic regression analysis was performed to determine the risk factors associated with NK in these patients., Main Outcome Measure: Prevalence of NK in chronic oGVHD., Results: We identified 213 patients diagnosed with chronic oGVHD following hematopoietic stem cell or bone marrow transplantation from our electronic patient database, and the prevalence of NK was 14%. The mean age of oGVHD patients with NK was 62.6 ± 12.9 years; 48% were women, 19 had unilateral NK, and ten had bilateral NK. In the cohort, 56%, 20%, and 24% eyes of the patients had grades 1, 2, and 3 of NK, respectively. The mean time to diagnose NK after transplantation was 52.9 ± 45.4 months. oGVHD patients diagnosed with NK had a significantly higher NIH oGVHD severity score (p = 0.04) and a lower corneal sensation score (p = 0.0001) than those without NK. Our analyses showed a significantly higher CFS score (p = 0.01) and a trend toward lower Schirmer test scores (p = 0.16) and tear break-up times (p = 0.08) in oGVHD patients with NK. Additionally, we observed a significantly higher prevalence of persistent epithelial defect (p = 0.0001), corneal ulceration (p = 0.0001), and corneal perforation (p = 0.005) in oGVHD patients diagnosed with NK. A logistic regression analysis to determine factors associated with NK showed that a higher NIH oGVHD score (odds ratio [OR] = 2.03, p = 0.026) and history of cataract surgery (odds ratio [OR] = 5.03, p = 0.001) are significant risk factors for NK in oGVHD patients., Conclusions: The prevalence of NK in chronic oGVHD patients was 14% during the study period. Our analysis shows that oGVHD patients with a higher NIH oGVHD severity score and previous history of cataract surgery are at a higher risk of developing NK and may develop severe sequelae such as persistent epithelial defect or corneal ulceration., Competing Interests: Declaration of competing interest No relevant conflicting relationship exists for any author., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Amyloidosis is characterized by systemic or local deposition of amyloid fibrils outside organs and tissues. Amyloidosis is rarely seen on cornea. A 30-year-old woman patient had had trichiasis in both eyes for 8 years. Trichiasis was observed, which touched the cornea. Slit lamp microscopy showed white gelatinous droplet-like eminences and trichiasis in the lower cornea of the right eye. Optical coherence tomography showed that the lesion involved most of the cornea. Hematoxylin and eosin staining showed that most of the stroma stained red, with scattered inflammatory cells. High expression of lactoferrin was detected by mass spectrometry, and the case was diagnosed as secondary corneal lactoferrin amyloidosis in the right eye.

Competing Interests: None

Purpose: The aim of this study was to report a case of central neurotrophic keratopathy (NK) in Wallenberg syndrome (WS) and its successful management with topical recombinant nerve growth factor (rNGF)., Methods: A 47-year-old man with WS caused by a stroke in the territory of the left vertebrobasilar artery complained of progressive visual loss in his left eye (OS). Examination showed corneal anesthesia associated with a corneal epithelial ulceration consistent with a diagnosis of NK grade 3 of central origin. Topical treatment with rNGF, 1 drop 6 times daily, was started for 8 weeks, and the patient was followed up for 1 year., Results: Topical treatment with rNGF was successful in promoting complete epithelial corneal healing. No recurrence was seen at 1-year follow-up., Conclusions: Clinicians should be aware that visual loss can also occur from NK of central origin. To the best of our knowledge, this is the first case report of NK caused by WS successfully treated with rNGF reported in the literature., Competing Interests: The authors have no funding or conflicts of interest to disclose., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: To estimate the incidence of corneal endothelial transplantation (CET) and identify risk factors among patients with noninfectious ocular inflammation., Design: Retrospective cohort study., Methods: Adult patients attending United States tertiary uveitis care facilities diagnosed with noninfectious ocular inflammation were identified from the Systemic Immunosuppressive Therapy for Eye Diseases Cohort Study. Time-to-event analysis was used to estimate the incidence of CET, including penetrating keratoplasty, Descemet stripping endothelial keratoplasty, or Descemet membrane endothelial keratoplasty procedures. The incidence of CET was calculated. Potential risk factors for CET were also evaluated using Cox regression, accounting for correlation between eyes of the same patient., Results: Overall, 14,264 eyes met eligibility criteria for this analysis, with a median follow-up of 1.8 eye-years. The Kaplan-Meier estimated incidence of CET within 10 years was 1.10% (95% CI, 0.68%-1.53%). Risk factors for CET included age >60 years vs <40 years (adjusted hazard ratio [aHR], 16.5; 95% CI, 4.70-57.9), anterior uveitis and scleritis vs other types (aHR, 2.97; 95% CI, 1.46-6.05; and aHR, 4.14; 95% CI,1.28-13.4, respectively), topical corticosteroid treatment (aHR, 2.84; 95% CI, 1.32-6.13), cataract surgery (aHR, 4.44; 95% CI, 1.73-11.4), tube shunt surgery (aHR, 11.9; 95% CI, 5.30-26.8), band keratopathy (aHR, 5.12; 95% CI, 2.34-11.2), and hypotony (aHR, 7.38; 95% CI, 3.14-17.4). Duration of uveitis, trabeculectomy, peripheral anterior synechia, and ocular hypertension had no significant association after multivariate adjustment., Conclusions: In patients with ocular inflammation, CET occurred infrequently. Tube shunt surgery, hypotony, band keratopathy, cataract surgery, and anterior segment inflammation were associated with increased risk of undergoing CET; these factors likely are associated with endothelial cell damage., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Purpose: To report a unique case of bilateral Chandler syndrome with recurrent band keratopathy., Methods: This is a retrospective observational case report., Results: A 39-year-old Asian man presented with progressive painless diminution of vision in both eyes for 6 years. Examination revealed diffuse corneal edema, hammered silver appearance of endothelium with guttae-like lesions, and corectopia in the right eye and mild corneal edema, central band keratopathy, and guttae-like lesions on the endothelium and peripheral anterior synechiae in the left eye. Routine specular microscopy, confocal microscopy, and pachymetry were performed. A clinical diagnosis of bilateral Chandler syndrome with band keratopathy was made. Superficial epithelial keratectomy with ethylenediaminetetraacetic acid (EDTA) chelation was performed in the left eye first, followed by Descemet-stripping automated endothelial keratoplasty in the right eye. Histopathological examination of the surgically excised Descemet membrane in the right eye showed multilayered endothelium with adhered epithelial cells consistent with Chandler syndrome. At 9-month follow-up, the right eye showed a clear cornea with an attached graft and the left eye revealed recurrence of central band keratopathy for which repeat EDTA chelation was successfully performed., Conclusions: Recurrent band keratopathy coincident with endothelial dysfunction in iridocorneal endothelial syndrome can be repeatedly treated with EDTA chelation, whereas endothelial keratoplasty might be delayed until the time point of corneal decompensation., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

The corneal endothelial monolayer and associated Descemet's membrane (DM) complex is a unique structure that plays an essential role in corneal function. Endothelial cells are neural crest derived cells that rest on a special extracellular matrix and play a major role in maintaining stromal hydration within a narrow physiologic range necessary for clear vision. A number of diseases affect the endothelial cells and DM complex and can impair corneal function and vision. This review addresses different human corneal endothelial diseases characterized by loss of endothelial function including: Fuchs endothelial corneal dystrophy (FECD), posterior polymorphous corneal dystrophy (PPCD), congenital hereditary endothelial dystrophy (CHED), bullous keratopathy, iridocorneal endothelial (ICE) syndrome, post-traumatic fibrous downgrowth, glaucoma and diabetes mellitus., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Purpose: This study aims to clinically and genetically report a case of coexisting Meesmann corneal dystrophy (MECD) and pseudo-unilateral lattice corneal dystrophy (LCD)., Methods: Clinical characterization was supported by a complete ophthalmological evaluation, including visual acuity measurement and slit-lamp examination. Molecular diagnosis was performed by whole-exome sequencing analyzing the gelsolin, keratin K3 (KRT3), keratin K12, and transforming growth factor-beta-induced genes., Results: A 57-year-old woman presented with recurrent corneal erosions over 17 years and visual impairment in both eyes. Ophthalmological evaluation revealed multiple central tiny cysts in the epithelium of both eyes and lattice linear lesions only in the right cornea. In both eyes, a corneal posterior crocodile shagreen degeneration could also be observed. These findings were compatible with a MECD and a unilateral LCD. Molecular analysis identified the novel heterozygous nucleotide substitution c.1492G>A (amino acid change p.Glu498Lys) in the KRT3 gene, in cosegregation with the MECD familial phenotype. However, no genetic evidence supported the unique LCD phenotype observed in the patient., Conclusions: To the best of our knowledge, this is the first report of a pseudo-unilateral LCD in a patient with coexistent MECD. Moreover, the genetic analysis showed a novel mutation in the previously MECD-associated gene KRT3., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc.)

Purpose: To examine the optical coherence tomography (OCT) and histologic features of Descemet membrane detachment (DMD) to ascertain the involvement of the pre-Descemet layer (PDL)., Design: Retrospective, observational case series., Methods: Clinical, histopathologic, and OCT features of a cohort of 41 cases with diagnosis of DMD from 4 centers were studied. OCT images were evaluated independently by 3 observers for number of detached layers (1 or 2), reflectivity, configuration (straight line or wavy), distance from posterior stroma, and presence or absence of a tear with any scrolling of the torn edges. Five had a histology specimen. The main outcome measure was the involvement of the PDL in DMD and its confirmation by histology., Results: Three types of DMD were identified: type 1, where the PDL and DM were detached together; type 2, where only the DM was detached; and mixed, where the PDL and DM were detached but also separated from each other. These were further found to be rhegmatogenous or nonrhegmatogenous depending on the presence of absence of a tear in DM or both layers. Histology confirmed involvement of PDL in all 5 cases and showed it to be infiltrated by cells in 3 of 5 cases., Conclusions: The PDL is involved in DMD. This fact significantly changes our understanding of DMD and could have implications for management. The detached PDL can be infiltrated with cells. A prospective study in relation to etiology and types of DMD is needed., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Here, we report the diagnostic challenge of a female patient of Russian descent with autosomal recessive hypotrichosis with juvenile macular dystrophy (HJMD). She presented to dermatology age one and a half years with sparse hair growth on her scalp, her parents were reassured this would grow, but it never manifested. She was found to be hypermetropic and prescribed glasses from age 2 but no retinal findings were noted. At age 23 years, the patient undertook an internet search and discovered the association of symptoms pointing towards HJMD. She sought genetic testing, revealing a homozygous missense mutation in Cadherin-3 ( CDH3 ) gene. The patient presented to our Genetic Eye Disease Service at Moorfields Eye Hospital age 27 years, with reduced colour, central distance and near vision. Fundus examination and imaging confirmed atrophic macular changes. Currently, HJMD has no treatment, she wears a wig, UV-protected sunglasses in sunlight and maintains a healthy balanced diet., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Competing Interests: None

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome with diversified ophthalmological manifestations. We report a case of a boy with bilateral features of Salzmann nodular degeneration (SND) associated with KS. An 18-year-old Caucasian man with KS presented for a second opinion regarding incapacitating photophobia in his right eye, refractory to medical therapy. Biomicroscopy revealed bilateral subepithelial nodules in the midperiphery of the cornea, less extensive in the left eye, consistent with SND. Symptomatic improvement was achieved after superficial keratectomy, manually performed with a blade and adjuvant application of mitomycin C. We report a rare case of a KS patient with SND. Since KS manifestations may vary widely, it is important to perform an early ophthalmological examination for prompt detection and treatment of ocular abnormalities and thus improve life quality in these patients., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: To report an unusual presentation of iridocorneal endothelial (ICE) syndrome associated with band keratopathy and its management with ethylenediamine-tetraacetic acid (EDTA) chelation and Descemet membrane endothelial keratoplasty (DMEK)., Methods: A 57-year-old female patient presented with unilateral progressive painless visual impairment, corneal band keratopathy, and morphological corneal endothelial changes without corneal edema or any previous ophthalmic, medical, or family history. Routine specular and confocal microscopy imaging, as well as biomicroscopy, best-corrected visual acuity, and pachymetry measurements were performed before and after the surgical procedures. Histopathologic and immunohistochemical evaluations of the surgically excised diseased DM-endothelium were performed., Results: Superficial epithelial keratectomy with EDTA chelation was performed. After an initial period of a few months of corneal clearance, the patient presented with recurrence of visually significant band keratopathy. After 1 year, she underwent retreatment with superficial epithelial keratectomy and EDTA chelation, followed by DMEK. Histopathologic and immunohistochemical analysis showed ICE syndrome. Two years after DMEK surgery, the cornea was still clear and band keratopathy had not recurred., Conclusions: To the best of our knowledge, this is the first case in the literature that reports the association of ICE syndrome with band keratopathy. As band keratopathy recurred shortly after EDTA chelation, endothelial keratoplasty (DMEK) may be indicated to successfully treat such cases.

All eight patients seen with various types of corneal dystrophy, a rare hereditary corneal disease, presented with infective keratitis. Unilateral microbial invasion was seen in all patients and the visual acuity of the affected eyes was <6/60 at presentation. We highlight our impression that microbial invasion can occur with all types of epithelial and stromal corneal dystrophy, including macular corneal dystrophy. Regular follow-up to maintain a healthy ocular surface is recommended to avert blindness in such patients.

Purpose: To evaluate the effect of corneal vesicles in patients with posterior corneal vesicles (PCV) on corneal endothelial cell (CEC) density and the acquisition of amblyopia., Methods: In this retrospective study of patients with PCV (18 eyes of 14 patients), CEC density was examined by noncontact specular microscopy during each follow-up examination. Best-corrected visual acuity and the objective refractive error were also examined., Results: Of the 14 total patients, 10 were diagnosed with PCV and 4 were diagnosed with bilateral suspected PCV or posterior polymorphous corneal dystrophy (PPCD), and in all patients, no ocular abnormality other than corneal vesicles was observed. In patients with PCV and patients with bilateral suspected PCV or PPCD, mean CEC density was 1131 ± 338 and 1095 ± 492 cells/mm, respectively. In both PCV group and the bilateral suspected PCV or PPCD-group patients who were followed for 164.2 ± 25.4 months (range: 123-186 months), CEC density tended not to decrease. In patients with PCV, the mean best-corrected visual acuity of the unaffected eyes was significantly higher than that of the affected eyes with corneal vesicles (-0.10 ± 0.06 and 0.05 ± 0.13, respectively, P = 0.012). Four of 9 affected eyes (1 eye was excluded because of retinal atrophy) exhibited amblyopia, and all 4 eyes had astigmatism higher than 2 diopters., Conclusions: Although CEC density of patients with PCV in this study was found to be stable over a long-term follow-up period, strict attention should be given to the possibility of amblyopia in eyes with PCV.

Purpose: to highlight the diagnostic and therapeutic challenges in a case with central and peripheral corneal lesions. Methods: We present the preoperative investigations: anterior segment optical coherence tomography and ultrasound biomicroscopy; The excised cornea has been examined histopathologically. Results: Preoperative assessment showed that peripheral lesion was not ectatic; Histopathological examination points to a possible corneal degeneration, with posttraumatic or infectious etiology for the peripheral lesion and gives some reasons to sustain the diagnosis of Schnyder's dystrophy for the central lesion. Conclusions: The association of different corneal lesions may need many investigations to establish the diagnosis and choose the most appropriate therapeutic solution.

Purpose: This study is to summarize the concurrent keratoconus (KC) and granular corneal dystrophy (GCD) phenotype and identify the underlying genetic cause in a 23-year-old male patient., Methods: A detailed family history and clinical data from the patient and his parents were collected by ophthalmologic examination. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing., Results: The proband was clinically diagnosed as a case of concurrent KC and GCD, which is a very rare presentation. His father and grandmother were diagnosed as GCD in both eyes. There was no character of KC in his father's and grandmother's eyes. A heterozygous TGFBI mutation in exon 4 (c.370G > A) was identified in the proband, which was predicted to generate a missense mutation (p.R124H). The mutation also existed in his father and grandmother. A heterozygous KRT12 mutation in exon 8 (c.1456-1457ins GTA) was identified in the proband, which was predicted to generate an insert mutation and created a premature termination codon. The mutation did not exist in his father and grandmother. The two mutations did not exist in his mother and 200 unrelated normal controls., Conclusions: KC can co-exist with GCD. The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD.

Gelsolin amyloidosis is a rare type of amyloidosis typically involving the cranial and peripheral nerves, but rarely the kidney. Here we report the clinical, kidney biopsy, and mass spectrometry findings in 12 cases of renal gelsolin amyloidosis. Of the 12 patients, five were men and seven were women with mean age at diagnosis of 63.8 years. Gelsolin amyloidosis was most common in Caucasians (six patients) and Asians (four patients), and included one each African-American and Hispanic patients. Nephrotic syndrome was the most common cause of biopsy, although most patients also had progressive loss of kidney function. Hematological and serological evaluation was negative in 11 patients, while one patient had a monoclonal gammopathy. The renal biopsy showed large amounts of pale eosinophilic Congo red-positive amyloid deposits typically restricted to the glomeruli. Immunofluorescence studies were negative for immunoglobulins in nine cases with three cases of smudgy glomerular staining for IgG. Electron microscopy showed mostly random arrangement of amyloid fibrils with focally parallel bundles/sheets of amyloid fibrils present. Laser microdissection of the amyloid deposits followed by mass spectrometry showed large spectra numbers for gelsolin, serum amyloid P component, and apolipoproteins E and AIV. Furthermore, the p. Asn211Lys gelsolin mutation on mass spectrometry studies was detected in three patients by mass spectrometry, which appears to represent a renal-limited form of gelsolin amyloidosis. Thus, renal gelsolin amyloidosis is seen in older patients, presents with nephrotic syndrome and progressive chronic kidney disease, and histologically exhibits glomerular involvement. The diagnosis can be confirmed by mass spectrometry studies., (Copyright © 2016 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)

Introduction: We herein report a case of bilateral unusually thick non-edematous keratoconic corneas with associated endothelial features of posterior polymorphous corneal dystrophy (PPCD)., Case Report: We report the case of a 27-year-old myopic woman who presented for refractive surgery. Slit lamp exam showed bilateral corneal protrusion with diffuse deep stromal and endothelial vesicular opacities and small paracentral bands. Topography showed generalized advanced corneal steepening in both eyes with increased anterior and posterior central corneal elevations in comparison to the best fit sphere. Ultrasound pachymetry showed central corneal thickness of 605μm (RE) and 612μm (LE). On specular biomicroscopy, cell density of 2503 cells/mm 2 RE and 1526 cells/mm 2 LE with significant cellular pleomorphism and polymegathism were noted., Discussion: Clinical and paraclinical findings together suggest the presence of simultaneous keratoconus and PPCD. The literature has suggested an association between PPCD and steep cornea. Moreover, many reports have also described cases of associated PPCD and keratoconus with characteristic thinning and ectasia, in comparison to the unusual thick corneas noted in our patient, despite the absence of edema. Identification of genetics factors is further needed to clarify this association., Conclusion: This case describes a patient whose corneas present features of both keratoconus and PPCD and is unique due to the presence of increased corneal thickness despite the absence of edema., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Purpose: To compare the accuracy of several methods of intraocular lens (IOL) power calculations used for cataract surgery in eyes treated with phototherapeutic keratectomy (PTK) that results in changes in the anterior corneal surface and axial length; these results make power calculations less predictable., Methods: We evaluated the medical records of 23 eyes of 13 patients (mean age, 68.8 years; range 62-80 years) who underwent cataract surgery after PTK at Keio University Hospital, Tokyo, Japan. The prediction error, defined as the difference between the estimated postoperative spherical equivalent and the postoperative manifest refraction at the spectacle plane, was calculated using five formulas: SRK/T, Haigis-L, Shammas-PL, Camellin-Calossi, and OKULIX ray tracing software. We compared the median values of the arithmetic and absolute prediction errors among the five formulas., Results: The median arithmetic errors after cataract surgery for the five formulas were 0.70 D (diopter) (range -0.41 to 2.78), -0.96 D (range -2.14 to 0.81), -0.81 D (range -1.89 to 1.15), -0.04 D (range -1.35 to 1.47), and 0.68 D (range -0.61 to 2.50), respectively., Conclusion: The Camellin-Calossi formula is a good option for calculating IOL powers in eyes that underwent PTK.

Introduction: Hereditary gelsolin amyloidosis (GA) is a rare condition caused by the gelsolin gene mutation. The diagnostic triad includes corneal lattice dystrophy (type 2), progressive bilateral facial paralysis, and cutis laxa. Detailed information on facial paralysis in GA and the extent of cranial nerve injury is lacking., Methods: 29 GA patients undergoing facial corrective surgery were interviewed, examined, and studied electroneurophysiologically., Results: All showed dysfunction of facial (VII) and trigeminal (V) nerves, two-thirds of oculomotor (III) and hypoglossal (XII) nerves, and half of vestibulocochlear (acoustic) (VIII) nerve. Clinical involvement of frontal, zygomatic, and buccal facial nerve branches was seen in 97%, 83%, and 52% of patients, respectively. Electromyography showed marked motor unit potential loss in facial musculature., Conclusions: Cranial nerve involvement in GA is more widespread than previously described, and correlates with age, severity of facial paralysis, and electromyographic findings. We describe a grading method for bilateral facial paralysis in GA, which is essential for evaluation of disease progression and the need for treatment., (© 2016 Wiley Periodicals, Inc.)

An observational case report of corneal perforation following scleral indentation in a patient with previously undiagnosed pellucid marginal degeneration is presented. Clinical examination, investigations, and subsequent management of this unwarranted and rare complication are described and discussed. The case highlights the need for thorough anterior segment examination before indirect ophthalmoscopy particularly in the presence of ectatic corneal pathology in which case scleral indentation should be avoided.

Purpose: Helicoid peripapillary chorioretinal degeneration (HPCD) is a hereditary disease of the fundus that is characterized by atrophic chorioretinal areas that appear early in life and expand gradually from the optic disc towards the macula and the periphery., Methods: We describe the case of an elderly man with a known diagnosis of HPCD who developed choroidal neovascular membrane (CNV) in both eyes during the course of the disease., Results: The patient was treated with intravitreal injection of ranibizumab, to which he had excellent response. The CNV subsided with 2 injections in the right eye and 1 in the left. Two years after the initial diagnosis of CNV in the right eye, visual acuity was 5/10 OD and 9/10 OS., Conclusions: Helicoid peripapillary chorioretinal degeneration is rarely complicated by CNV as the fundus lacks the trigger factors that would sustain this process. Although rare, HPCD complicated by CNV can be seen bilaterally, but responds well to few ranibizumab injections.

Purpose: To report results of femtosecond laser-assisted lamellar keratectomy (FLK) for corneal opacities secondary to anterior corneal dystrophies., Methods: Patients with a clinical diagnosis of Reis-Bücklers corneal dystrophy, granular corneal dystrophy, lattice corneal dystrophy, and macular corneal dystrophy were treated. FLK was performed to remove a central corneal free cap of 9.5 mm in diameter at a depth of 110 to 140 μm on which histological analysis was undertaken. Preoperative and postoperative refraction, best spectacle-corrected visual acuity, corneal topography results, and color photographs were recorded. Postoperative in vivo confocal microscopy of the cornea was performed. Changes in uncorrected visual acuity and best spectacle-corrected visual acuity, keratometry, refractive error, corneal irregularity, residual or recurrent central corneal opacities, and corneal haze were used to assess the outcome., Results: Eight eyes of 6 patients were treated. The clinical diagnosis was confirmed histologically in all cases. Visual acuity improved significantly from 0.49 ± 0.2 logMAR to 0.14 ± 0.13 logMAR after a mean follow-up of 29 ± 14 (range 8-54) months. Residual central stromal opacities were noted in 5 of 8 eyes immediately postoperatively. Clinically significant recurrence of disease was noted in 1 eye. Keratometry and refraction remained stable, and no further surgical intervention was needed. Patients with stromal corneal dystrophies had worse outcome than those with Reis-Bücklers corneal dystrophy., Conclusions: In this case series, FLK provided both therapeutic and diagnostic intervention, delaying more invasive surgery. In vivo confocal microscopy showed signs of postoperative corneal stromal neuropathy.

Unlabelled: We highlight potential problems and pitfalls in cases of Salzmann nodular degeneration by reporting the case of an 84-year-old man with reduced visual acuity due to particularly extensive bilateral Salzmann nodules and moderate cataracts. Large annular Salzmann lesions were removed by superficial keratectomy in each eye. The reproducibility and accuracy of keratometry and biometry improved significantly, and uneventful phacoemulsification cataract surgery was performed 4 weeks after the keratectomy. The phacoemulsification procedures were routine other than the development of pronounced epithelial bullae in the area of Salzmann nodule excision. At final review, the uncorrected distance visual acuity was 20/20 in the right eye and 20/25 in the left eye., Financial Disclosure: No author has a financial or proprietary interest in any material or method mentioned., (Copyright © 2015 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.)

Background: To evaluate and compare the efficacy of phototherapeutic keratectomy (PTK) for recurrent corneal erosion (RCE) caused by trauma, map-dot-fingerprint dystrophy (MDF) or instances without an established cause., Methods: Single center prospective longitudinal study. Between January 2003 and November 2006 we treated 89 eyes of 82 patients with PTK. All patients presented with refractory RCE caused either by trauma, MDF or with no established cause. During follow-up (until May 2013), patients, treating ophthalmologists and/or family doctors were interviewed about the patients' state of health, recurrence of pain, the necessity of further treatments or the occurrence of complications. Five patients died or were lost during follow-up and were thus excluded from the analysis. Freedom of recurrence was estimated using logistic regression analysis using indicator variates for the following three etiologic groups: trauma (55 eyes), MDF (29 eyes) and idiopathic (no established cause; 5 eyes)., Results: Overall 89 eyes of 82 patients were followed-up. Average follow-up among failures and non-failures was 51.56 months (standard deviation (SD) 21.22, range 24 to 91) and 95.25 months (SD 15.99, range 35 to 137 months), respectively. Fifty-seven percent were female and the average age at first PTK was 45.3 years (range: 23 to 70 years). During follow-up, there were 25 recurrences and 15 of these patients received a re-PTK. Compared to patients with a traumatic cause of epithelial erosions, the likelihood of experiencing a recurrence was higher in patients with MDF [odds ratio (OR) 5.48; 95 % confidence interval (CI) 1.93 to 15.59; p = 0.001]; the OR was 8.81 (95 % CI 1.27 to 61.32; p = 0.028) for patients with an idiopathic cause., Conclusions: In view of the available evidence, we want to raise the awareness of those managing patients with MDF and idiopathic causes that, in order to control the disease, recurrent PTK treatments are expected to be necessary more often than in cases of traumatic RCE.

Case Report: Posterior Polymorphous Dystrophy (DPP) is a rare posterior corneal dystrophy that is genetically transmitted as autosomal dominant. Corneal structures affected in this dystrophy are Descemet membrane and the endothelium. A case is presented on a 47 years old woman with no relevant history, with typical findings of DPP (vesicular and band lesions at the endothelium and posterior Descemet)., Discussion: To our knowledge there are no reported cases of DPP in Latin-American patients in the literature. The clinical manifestations in our patient were found to be very similar to the cases reported in other populations., (Copyright © 2014 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.)

Posterior polymorphous corneal dystrophy (PPCD) is an extremely rare, bilateral, and inherited disorder, which affects the corneal endothelium and Descemet's membrane. Few PPCD cases in Chinese patients have been published so far. As far as we know, there are few studies which focused on the associations between PPCD and high myopia either. Here we report a rare case of coexistence of posterior polymorphous corneal dystrophy, resultant high myopia and with-the-rule developing corneal astigmatism in a young Chinese boy. A 6-year-old boy was first referred to our department 7 years ago, complaining of bilateral poor vision. Examinations of both eyes including ophthalmologic examination, cycloplegic refraction examination, confocal microscopy findings, and corneal topography were performed. Bilateral small aggregates of vesicular lesions and patchy hyperreflectivity were observed at the level of the Descemet's membrane on confocal microscopy, which is consistent with typical PPCD. Optometry and corneal topography examinations showed a resultant high myopia. Ocular examinations were performed annually to follow up with the patient in the past 7 years. The corneal lesions remained stable whereas an axial elongation and a sharp increase in both spherical and cylindrical equivalent power were observed. Close follow-ups including thorough scrutiny of the endothelium and systematic ocular ancillary examinations are essential for patients with PPCD. The pathological coexistence of PPCD and high myopia in our case is possibly due to a shared etiological pathway or genetic background. Advanced genetic analysis on similar cases is expected if more samples can be provided.

Purpose: To evaluate the clinical outcomes, safety, and efficacy of cataract surgery with the implantation of a toric intraocular lens (IOL) in eyes with stable pellucid marginal degeneration (PMD)., Methods: Eleven eyes (eight patients) diagnosed as stable PMD and cataract underwent mini-incision 2.2 mm cataract surgery followed by the implantation of hydrophobic toric aspheric IOL (AcrySof IQ Toric IOL, Alcon, Fort Worth, TX, USA). Perioperative variables of interest included uncorrected (UDVA) and corrected (CDVA) distance visual acuities, manifest refraction, and corneal topography. Paired samples t-tests were used to analyze preoperative and postoperative visual acuity, astigmatism, and spherical equivalent (SE) parameters. Follow-up was 6 months., Results: The mean CDVA was 0.62±0.26 logMAR preoperatively and 0.07±0.07 logMAR postoperatively. The mean preoperative sphere and cylinder was -3.14±3.58D and -4.84±2.02D, respectively. The mean postoperative manifest refractive sphere and cylinder was -0.30±0.51D and -0.81±1.51D, respectively. There was a significant reduction in refractive astigmatism after toric IOL implantation (P<0.002). The toric IOL axis rotation was <5° in all cases at the final follow-up., Conclusions: Implantation of hydrophobic toric IOL was a safe and effective surgical procedure to correct mild to moderate stable PMD.

Purpose: To describe a case of extensive macular atrophy and pseudodrusen complicated by bilateral choroidal neovascularization (CNV)., Methods: A 53-year-old woman showed extensive macular atrophy at the posterior pole associated with disciform scar in the right eye and fibrotic juxtafoveal CNV in the left eye., Results: The patient underwent a complete ophthalmological examination including fundus autofluorescence, fluorescein angiography, and spectral-domain optical coherence tomography, showing a disciform scar at the posterior pole of the right eye and an extensive macular atrophy associated with a fibrotic juxtafoveal CNV. The patient was previously treated with four and seven intravitreal bevacizumab injections, respectively, in the right eye and in the left eye. Molecular analyses of the ABCA4 gene revealed the variant c.1268A