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Aim: The distinctive feature of corneal dystrophies is the existence of abnormal deposits that are insoluble and found in different layers of the cornea. While corneal thickness has been investigated in corneal stromal dystrophies, anterior scleral thickness has not yet been evaluated. We aimed to investigate anterior scleral thickness and corneal and anterior segment parameters in corneal stromal dystrophies in this study. Materials and Methods: The study was conducted with 35 eyes with corneal stromal dystrophies from 19 patients and 35 healthy controls. We calculated the anterior scleral thickness 4 mm posterior to the scleral spur in the nasal and temporal quadrants, by anterior segment optic coherence tomography (Triton, Topcon, Japan). Scheimflug corneal tomography (Sirius, CSO, Italy) was performed to assess corneal and anterior segment parameters. Results: The mean age was 36.5±12.1 years in the dystrophy group. The mean temporal scleral thickness was 556.67±15.11 µm, and the mean nasal scleral thickness was 565.83±15.18 µm, statistically similar to those of the control group (p=0.81, p=0.51, respectively). However, the difference between temporal and nasal scleral thickness values was not statistically significant in the dystrophy group (p=0.53, p=0.57). Intraocular pressure was higher in lattice stromal dystrophy than in other dystrophies (p=0.005). There was found to be a moderate, positive correlation between age and nasal scleral thickness in the control group. (r=0.432; p=0.010). Conclusion: In conclusion, we found that scleral thickness did not change in corneal dystrophies. Further histological studies are needed to conclusively exclude microstructural alterations of scleral thickness in patients with corneal stromal dystrophies. [ABSTRACT FROM AUTHOR]

Purpose: To provide a brief summary and comparison of the most recent literature on available and theorized treatment modalities for classic lattice corneal dystrophy (LCD). This paper aims to support practitioners in their management of this disease. Methods: A search was carried out on available literature through PubMed and Google Scholar of English language articles up to January 2023 that relate to the treatment of LCD. Due to scarcity of literature regarding specific novel therapies for LCD, results from other corneal pathologies (granular corneal dystrophy, corneal scarring) are sometimes included for contrast, which is clearly denoted. Results: LCD is a slowly progressive disease that leads to recurrent epithelial corneal erosions, stromal haze, corneal opacification, substantial discomfort, and visual impairment. Due to its autosomal-dominant inheritance pattern, this disease can persist throughout ancestral lines and requires consistent treatment and follow-up. An optimal management plan is necessary to (1) prolong years of life with best achievable visual acuity; (2) treat painful recurrent corneal erosions as they occur; (3) ensure proper follow-up throughout the life of a patient, as well as monitor at-risk offspring; and (4) monitor efficacy of treatment. Conclusions: This paper addresses (1) treatment for early disease including corneal epithelial debridement, photo therapeutic keratectomy (PTK), femtosecond laser–assisted lamellar keratectomy (FLK), and others; (2) treatment for late disease including full thickness keratoplasties and anterior lamellar keratoplasties; and (3) potential future treatment considerations including a wide variety of topical/systemic, genetic, and regenerative approaches. [ABSTRACT FROM AUTHOR]

Purpose: To report a rare case of lattice corneal dystrophy type 1 (LCD1) with bilateral Mooren's ulcer. Observations: This case involved a 62-year-old male patient with LCD1 who presented with the primary complaint of experiencing pain and photophobia in both eyes for 2 months prior to his initial visit. Upon examination, a peripheral corneal ulcer was observed in both eyes covering more than 3 of the 4 quadrants, accompanied with ciliary injection and severe corneal infiltration. He was diagnosed with Mooren's ulcer, and treatment with 0.1% betamethasone and 0.5% levofloxacin eye drops and systemic cyclosporine and betamethasone was initiated. At 1-month post treatment initiation, a remaining ulceration ridge was observed on the corneal surface in his left eye, which was subsequently resected. Complete epithelialization was achieved at 1-month postoperative in the left eye and after 6-months of conservative topical treatment in the right eye. At 8–9 years post onset of Mooren's ulcer, the patient underwent penetrating keratoplasty in both eyes while undergoing treatment with oral cyclosporine administration for severe corneal opacity due to progression of lattice dystrophy. Post treatment, there has been no recurrence of ulcerations, even though more that 10 years has passed since the onset of Mooren's ulcer. Conclusions and importance: To the best of our knowledge, this is the first reported case of LCD1 with bilateral Mooren's ulcer, and in this rare case, the patient was successfully treated with a combination of steroid, cyclosporine, and peripheral superficial keratectomy, and a good visual outcome was achieved after penetrating keratoplasty (PK) under the use of systemic cyclosporine.

To delineate the mutations of the TGFBI gene in Eastern China by whole-exome sequencing (WES) in eight Chinese families with lattice corneal dystrophy (LCD). This retrospective study included eight families with LCD from Eastern China. Clinical features were examined using slit-lamp examination, anterior segment optical coherence tomography, and in vivo confocal microscopy. Peripheral blood samples of probands were collected for WES, and saliva samples from family members were collected for TGFBI screening using Sanger sequencing. The physicochemical effects of mutations were investigated using bioinformatics tools. Family 1 presented a classic LCD I with a p.R124C mutation of the TGFBI gene, while the other seven families were diagnosed with LCD IIIA. Six of the seven LCD IIIA families had heterozygous single-gene mutations (p.A546D, p.L565 H, p.T621P), and one had a compound heterozygous (cis) mutation (p.P501T and p.N622 H). The mutation of p.L565 H was the first time of integrated family report in contrast to the cases reported in 2019, and the p.T621P mutation was first reported in a Chinese population. Notably, the family with the compound mutation was associated with an obvious early-onset (in the 2nd decade of life) compared to the LCD IIIA patients with each single mutation (p.P501T or p.N622 H) showing late-onset (in the 7th decade of life). WES is efficient for the genomic testing of LCD and genetic relationship identification in different families with the same mutated gene. We identified a compound heterozygous mutation (p.P501T and p.N622 H) and two mutations (p.T621P and p.L565 H) uncommon in China. [ABSTRACT FROM AUTHOR]

Background: Mutations of the transforming growth factor-β-induced (TGFBI) gene produce various types of corneal dystrophy. Here, we report a novel de novo L509P mutation not located in a known hot spot of the transforming growth factor-β-induced (TGFBI) gene and its clinical phenotype, which resembles that of lattice corneal dystrophy type IIIA (LCD IIIA). Case presentation: A 36-year-old man (proband) visited our clinic due to decreased visual acuity with intermittent ocular irritation in conjunction with painful recurrent erosions in both eyes for 10 years. Molecular genetic analyses revealed a TGFBI L509P mutation (c.1526T>C) in the proband and one of his sons. Interestingly, neither TGFBI mutations nor corneal abnormalities were detected in either of the proband's biological parents, indicating the occurrence of a de novo L509P mutation. Clinical examinations, including slit-lamp retro-illumination and Fourier-domain anterior segment optical coherence tomography (FD-OCT), revealed gray deposits in the anterior stroma and deeper refractile lines extending from limbus to limbus in both corneas of the proband, consistent with a diagnosis of LCD IIIA. Superficial diffuse haze and surface irregularity were observed in conjunction with corneal erosions and visual impairment, necessitating phototherapeutic keratectomy (PTK). A 60 μm PTK of the Bowman layer and anterior stroma of the proband's left eye was performed following the removal of the epithelium in order to remove superficial corneal opacities. His BCVA improved from 20/400 to 20/50 at postoperative week 8 and was maintained for 45 months. Pinhole-corrected VA was 20/20 at the last visit, and corneal opacities had not recurred. Conclusions: An inheritable de novo mutation of L509P in the TGFBI gene can produce severe LCD IIIA, which can be successfully treated with OCT-guided PRK. [ABSTRACT FROM AUTHOR]

Background: Keratoconus (KC, or corneal ectasia) is a multifactorial disease with a genetic component and an average annual incidence rate of 2.0/100,000 persons. Lattice corneal stromal dystrophy (LCD), a monogenic disorder with varying phenotypic manifestations, is the most common hereditary corneal dystrophy associated with mutations in the TGFBI gene in Ukraine, with as much as 40.2% of cases attributed to this disease. Purpose: To elucidate the role of polymorphic variants in the IL6 promoter (-174 G/C) and IL10 (-1082G/A and -592C/A) as factors of a genetic predisposition to KC and recurrent corneal erosion in Ukrainian patients with LCD. Material and Methods: All patients underwent a routine eye examination including visual acuity assessment, biomicroscopy, fluorescein testing, tonometry and ophthalmoscopy. In addition, patients with KC underwent keratotopography, pachymetry, remote biometry and gonioscopy. Genotyping was done for IL6 -174 G/C, IL10 -1082G/A and IL10 -592C/A by polymerase chain reaction followed by restriction fragment length polymorphism. Fexact test was used for statistical analyses. Results: The frequency of homozygotes (AA) for IL10 rs1800896 was increased, whereas the frequency of homozygotes (CC) for IL6 174G/С was decreased in patients with KC compared to controls (0.25 vs 0.19 and 0.18 vs 0.22, respectively), although the differences were not statistically significant. The frequency of IL6 C allele carriers was significantly higher among patients with LCD and recurrent corneal erosion than controls (0.78 vs 0.66, respectively; p < 0.05). There was a statistically significant difference in the proportion of carriers of the IL10 -592A allele between patients with recurrent corneal erosion and population sample (0.483 vs 0.327, respectively, p < 0.05). Conclusion: IL6 174G/С, IL10 -592С/A and IL10 -1082G/C and the genes determining the pathological processes in the cornea produce a cumulative effect towards modifying the clinical phenotype in keratoconus and lattice corneal dystrophy.

Lattice corneal dystrophy (LCD) is rare, bilateral, slowly progressive, inherited condition characterized by amyloid deposition in the corneal stroma. Recurrent corneal erosions most commonly occur with LCD due to abnormal basement membrane complexes incapable of providing normal structural integrity to the epithelial layer predisposing the cornea to microbial infections such as bacterial and fungal keratitis. Amyloid fibrils have also been postulated to cause tissue damage by stimulating local and nonlocal immune cell infiltration into the tissues and producing pro-inflammatory cytokines leading to sterile inflammation. This case is one of the few rare case reports of sterile infiltrates in LCD Type 1, patients identified after multiple treatment failures to the best of our knowledge.

Stromal corneal dystrophies are a group of hereditary disorders caused by mutations in the TGFBI gene. The mutant TGFBIp is prone to protein aggregation and the mutant protein gets deposited in the cornea, leading to severe visual impairment. The mutations lead to a corneal specific protein aggregation suggesting the involvement of tissue-specific factors. The exact molecular mechanism of the process of tissue-specific protein aggregation remains to be elucidated. Differential proteolysis of mutant TGFBIp is a critical component of the disease pathology. The differential proteolysis gives rise to shorter peptides that are highly aggregation-prone and initiate the aggregation cascade. Analyzing the proteolytic processing of the different TGFBIp mutant may provide insight to aid in understanding the amyloid aggregation mechanism. We developed a MALDI-MSI methodology to identify expression and spatial localization of TGFBIp peptides in the cornea. Corneal tissue samples were collected from both control and dystrophic patients (with 2 different mutations), embedded in OCT and sectioned. The sections were trypsin digested and subjected to mass spectrometry imaging using a targeted approach to detect TGFBIp. MALDI-MSI identified peptides from TGFBIp that co-localized with the amyloid corneal deposits. In addition to the relative abundance data, the specific location of the peptides across the corneal sections as molecular signatures was also identified. Spatial distribution and intensity of the TGFBIp peptides showed differences between diseased and control models but also between the two LCD phenotypes. The TGFBIp peptide with m/z of 787.474 and m/z of 1179.579 showed increased expression in both LCD mutants compared to the controls. The peptide with m/z of 929.5 showed increased expression in the LCD phenotype with H626R mutation while the peptide with m/z of 1315.802 was abundant in the sample with R124C mutation. This initial report of 2D spatial protein signature and localization of TGFBIp may be expanded to other mutations to understand the proteolytic patterns of TGFBIp in different mutations. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study is to evaluate the outcomes of keratoplasty for lattice corneal dystrophy (LCD) performed at a tertiary eye care center. Methods: A retrospective review of medical records of those patients who were clinically diagnosed to have LCD (72 eyes of 57 patients) and underwent either penetrating keratoplasty (PK, 58 eyes of 46 patients) or deep anterior lamellar keratoplasty (DALK, 14 eyes of 13 patients) between the years 1987 and 2014 was performed. The main outcome measures included demographics, clinical features, and outcomes of keratoplasty. Results: The median follow-up after keratoplasty was 3.1 years (interquartile range [IQR], 9 months to 9 years). The median best-corrected visual acuity (BCVA) was 0.18 (IQR, 0.10–0.48) (Snellen equivalent 20/30 [IQR, 20/25–20/60]) at 4 years postoperatively and 0.65 (IQR, 0.18-0.95) (Snellen equivalent 20/89 [IQR, 20/30–20/178]) at 10 years following surgery. DALK eyes had a significantly better BCVA than PK eyes at 2 years following keratoplasty. The median overall survival of grafts was 15.8 years. Late complications included recurrence of LCD (14 eyes), graft infiltrate (23 eyes), graft rejection (15 eyes), graft failure (16 eyes), and glaucoma (14 eyes). Conclusion: The outcomes of graft are similar following PK and deep anterior lamellar keratoplasty; however, the latter appears to provide slightly better visual outcome. Recurrence of dystrophy in the graft and graft infiltrates limit the overall graft survival in both the groups.

Background: Keratoconus (KC, or corneal ectasia) is a multifactorial disease with a genetic component and an average annual incidence rate of 2.0/100,000 persons. Lattice corneal stromal dystrophy (LCD), a monogenic disorder with varying phenotypic manifestations, is the most common hereditary corneal dystrophy associated with mutations in the TGFBI gene in Ukraine, with as much as 40.2% of cases attributed to this disease. Purpose: To elucidate the role of polymorphic variants in the IL6 promoter (-174 G/C) and IL10 (-1082G/A and -592C/A) as factors of a genetic predisposition to KC and recurrent corneal erosion in Ukrainian patients with LCD. Material and Methods: All patients underwent a routine eye examination including visual acuity assessment, biomicroscopy, fluorescein testing, tonometry and ophthalmoscopy. In addition, patients with KC underwent keratotopography, pachymetry, remote biometry and gonioscopy. Genotyping was done for IL6 -174 G/C, IL10 -1082G/A and IL10 -592C/A by polymerase chain reaction followed by restriction fragment length polymorphism. Fexact test was used for statistical analyses. Results: The frequency of homozygotes (AA) for IL10 rs1800896 was increased, whereas the frequency of homozygotes (CC) for IL6 174G/C was decreased in patients with KC compared to controls (0.25 vs 0.19 and 0.18 vs 0.22, respectively), although the differences were not statistically significant. The frequency of IL6 C allele carriers was significantly higher among patients with LCD and recurrent corneal erosion than controls (0.78 vs 0.66, respectively; p < 0.05). There was a statistically significant difference in the proportion of carriers of the IL10 -592A allele between patients with recurrent corneal erosion and population sample (0.483 vs 0.327, respectively, p < 0.05). Conclusion: IL6 174G/C, IL10 -592C/A and IL10 -1082G/C and the genes determining the pathological processes in the cornea produce a cumulative effect towards modifying the clinical phenotype in keratoconus and lattice corneal dystrophy. [ABSTRACT FROM AUTHOR]

Stromal corneal dystrophies are a group of hereditary disorders caused by mutations in the TGFBI gene. The mutant TGFBIp is prone to protein aggregation and the mutant protein gets deposited in the cornea, leading to severe visual impairment. The mutations lead to a corneal specific protein aggregation suggesting the involvement of tissue-specific factors. The exact molecular mechanism of the process of tissue-specific protein aggregation remains to be elucidated. Differential proteolysis of mutant TGFBIp is a critical component of the disease pathology. The differential proteolysis gives rise to shorter peptides that are highly aggregation-prone and initiate the aggregation cascade. Analyzing the proteolytic processing of the different TGFBIp mutant may provide insight to aid in understanding the amyloid aggregation mechanism. We developed a MALDI-MSI methodology to identify expression and spatial localization of TGFBIp peptides in the cornea. Corneal tissue samples were collected from both control and dystrophic patients (with 2 different mutations), embedded in OCT and sectioned. The sections were trypsin digested and subjected to mass spectrometry imaging using a targeted approach to detect TGFBIp. MALDI-MSI identified peptides from TGFBIp that co-localized with the amyloid corneal deposits. In addition to the relative abundance data, the specific location of the peptides across the corneal sections as molecular signatures was also identified. Spatial distribution and intensity of the TGFBIp peptides showed differences between diseased and control models but also between the two LCD phenotypes. The TGFBIp peptide with m/z of 787.474 and m/z of 1179.579 showed increased expression in both LCD mutants compared to the controls. The peptide with m/z of 929.5 showed increased expression in the LCD phenotype with H626R mutation while the peptide with m/z of 1315.802 was abundant in the sample with R124C mutation. This initial report of 2D spatial protein signature and localization of TGFBIp may be expanded to other mutations to understand the proteolytic patterns of TGFBIp in different mutations.

Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing.

Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of seven members of a two-generation family. Exome sequencing was performed in the proband, and targeted Sanger sequencing in the others. The heterozygous GSN variant p.Glu580Lys was identified in six patients. The patients exhibited corneal dystrophy (5/6), loose skin (5/6) and/or heart arrhythmia (3/6) and one presented with bilateral optic neuropathy. The impact of the mutation on the protein structure was evaluated in silico. The substitution is located in the fifth domain of gelsolin protein, homologous to the second domain harboring the most common pathogenic variant p.Asp214Asn. Structural investigation revealed that the mutation might affect protein folding. Histopathological analysis showed amyloid deposits in the skin. The p.Glu580Lys is associated with corneal dystrophy, strengthening the association of the fifth domain of gelsolin protein with the typical amyloidosis phenotype. Furthermore, optic neuropathy may be related to the disease and is essential to identify before discussing corneal transplantation.

Background: To evaluate the distribution of the transforming growth factor-beta induced (TGFBI) corneal dystrophies in a multi-ethnic population in Singapore, and to present the different phenotypes with the same genotype. Methods: This study included 32 patients. Slit lamp biomicroscopy was performed for each patient to determine the disease phenotype. Genomic DNA was extracted from the blood samples and the 17 exons of the TGFBI gene were amplified by PCR and sequenced bi-directionally for genotype analysis. Results: Regarding phenotypes, the study patients comprised 11 (34.4%; 8 with R555W and 3 with R124H mutation) patients with granular corneal dystrophy type 1 (GCD1), 6 (18.8%; 5 with R124H and 1 with R124C mutation) patients with GCD2, 13 (40.6%; 7 with R124C, 2 with H626R, 2 with L550P, 1 with A620D and 1 with H572R) patients with lattice corneal dystrophy (LCD) and 2 (6.3%; 1 with R124L and 1 with R124C) patients with Reis–Bückler corneal dystrophy. Regarding genotype, R124H mutation was associated with GCD2 (5 cases; 62.5%) and GCD1 (3 cases; 37.5%). R124C mutation was associated with LCD (7 cases; 87.5%) and GCD2 (1 case; 12.5%). All the 8 cases (100%) of R555W mutation were associated with GCD1. Conclusions: Although the association between genotype and phenotype was good in most cases (65.7%; 21 of 32 patients), genotype/phenotype discrepancy was observed in a significant number.

Purpose: The purpose of this study is to evaluate the outcomes of keratoplasty for lattice corneal dystrophy (LCD) performed at a tertiary eye care center.Methods: A retrospective review of medical records of those patients who were clinically diagnosed to have LCD (72 eyes of 57 patients) and underwent either penetrating keratoplasty (PK, 58 eyes of 46 patients) or deep anterior lamellar keratoplasty (DALK, 14 eyes of 13 patients) between the years 1987 and 2014 was performed. The main outcome measures included demographics, clinical features, and outcomes of keratoplasty.Results: The median follow-up after keratoplasty was 3.1 years (interquartile range [IQR], 9 months to 9 years). The median best-corrected visual acuity (BCVA) was 0.18 (IQR, 0.10-0.48) (Snellen equivalent 20/30 [IQR, 20/25-20/60]) at 4 years postoperatively and 0.65 (IQR, 0.18-0.95) (Snellen equivalent 20/89 [IQR, 20/30-20/178]) at 10 years following surgery. DALK eyes had a significantly better BCVA than PK eyes at 2 years following keratoplasty. The median overall survival of grafts was 15.8 years. Late complications included recurrence of LCD (14 eyes), graft infiltrate (23 eyes), graft rejection (15 eyes), graft failure (16 eyes), and glaucoma (14 eyes).Conclusion: The outcomes of graft are similar following PK and deep anterior lamellar keratoplasty; however, the latter appears to provide slightly better visual outcome. Recurrence of dystrophy in the graft and graft infiltrates limit the overall graft survival in both the groups. [ABSTRACT FROM AUTHOR]

We report the first Italian family affected by hereditary gelsolin amyloidosis ( HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Electrophysiological studies confirmed bilateral facial nerve involvement, without signs of peripheral polyneuropathy, and ophthalmological examination showed bilateral lattice corneal dystrophy, in both the index case and his mother. Gelsolin-gene sequencing revealed the heterozygous c. 640G>A mutation (p. Asp187Asn) in the proband, his mother and aunt and also in three apparently asymptomatic relatives. The majority of HGA patients come from Finland, although several cases have been reported from other countries. HGA should be considered in the differential diagnosis of progressive or recurrent bilateral facial neuropathy. [ABSTRACT FROM AUTHOR]

Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis was performed to characterize the genetic spectrum of corneal dystrophies in Korean patients. Patients with various corneal dystrophies underwent thorough ophthalmic examination, histopathologic examination, and Sanger sequencing. A total of 120 probands were included, with a mean age of 50 years ( SD = 18 years) and 70% were female. A total of 26 mutations in five genes (14 clearly pathogenic and 12 likely pathogenic) were identified in 49 probands (41%). Epithelial-stromal TGFBI dystrophies, macular corneal dystrophy and Schnyder corneal dystrophy ( SCD) showed 100% mutation detection rates, while endothelial corneal dystrophies showed lower detection rates of 3%. Twenty six non-duplicate mutations including eight novel mutations were identified and mutations associated with SCD were identified genetically for the first time in this population. This study provides a comprehensive characterization of the genetic aberrations in Korean patients and also highlights the diagnostic value of molecular genetic analysis in corneal dystrophies. [ABSTRACT FROM AUTHOR]

Objective: We aimed to study the predictive value of the neutrophil-lymphocyte ratio (NLR) for left ventricular systolic dysfunction (LVSD) in patients with non ST-elevated acute coronary syndrome (NSTACS). Methods: A total of 405 patients (mean age 62 years and 75% male) with NST-ACS were included in the study. The study population was divided into tertiles based on admission NLR values. The low, medium and high tertiles defined as NLR≤1.81 (n=135), 1.813.2 (n=135), respectively. Results: The patients in the high NLR group were older (p<0.001), have higher rate of diabetes mellitus (p=0.028) and non-ST elevated myocardial infarction (NSTEMI) (p<0.001) and have lower left ventricular ejection fraction (LVEF) (p<0.001). Baseline WBC (p=0.02) and neutrophil (p<0.001) levels and NLR (p<0.001) were significantly higher, baseline hemoglobin (p=0.044), hematocrit (p=0.019) and lymphocyte (p<0.001) levels were significantly lower in the high NLR group. NLR was negatively correlated with LVEF in correlation analysis. An NLR >3.2 and age ≥70 were found to be an independent predictor of systolic dysfunction in multivariate analyses. Conclusion: An NLR >3.2 is a useful predictor for LVSD in patients with NST-ACS. The practice of using an NLR count on admission may be useful for identifying high-risk patients and their associated treatment methods. [ABSTRACT FROM AUTHOR]

Objective: The aim was to compare the corneal topography and tomography parameters of macular corneal dystrophy (MCD), granular corneal dystrophy (GCD) and lattice corneal dystrophy (LCD) patients obtained by Scheimpflug imaging system. Methods: The charts, photographs and topography images of patients were reviewed retrospectively. This study included 73 eyes of 73 patients (28 MCD, 20 GCG and 25 LCD patients). Topography images were obtained by Pentacam (Oculus Optikgerate, Wetzlar, Germany). The densitometry readings at the corneal apex were used for the statistics. Results: The female to male ratio was 13/15 in MCD group, 12/8 in GCD group and 13/12 in LCD group. The mean age median age was 32, 45 and 53 years in MCD, GCD and LCD groups respectively. The groups were similar regarding the gender (p=0.861). The MCD group was significantly younger than the other two groups (p<0.001). The median (minmum-maximum) corneal densities were 100 (100-100), 68 (17-100) and 97 (34- 100) Pentacam densitometry units in MCD, GCD and LCD groups respectively. The corneal density at the corneal apex was significantly higher in MCD group than in the other groups (p<0.001). The GCD and LCD groups were statistically similar in terms of density of the corneal apex (p=0.079). In MCD group, corneal thickness at the apex and at the thinnest location was significantly thinner, than in the other groups (p=.002 for thickness at apex between MCD and LCD, and p<.001 for all the remaining comparisons). In MCD group corneal volume was significantly smaller than in the other groups (p<.001 for all comparisons). Conclusion: Densitometry on Scheimpflug imaging system gives information on the density of corneal opacities. [ABSTRACT FROM AUTHOR]

Lattice corneal dystrophy is a distinct clinical entity characterised by amyloid deposits in the corneal stroma. We report a patient who presented with a corneal fistula in the right eye and thick lattice lines involving the peripheral cornea in both eyes suggestive of type III lattice dystrophy. The association of corneal fistula with lattice corneal dystrophy type III makes this a unique case.

The article presents a case study of 67-year-old man with bilateral lattice corneal dystrophy and scarred left cornea from a superficial central corneal laceration following a motor vehicle accident. Examination revealed standard deviations (SD) for both central corneal thickness and keratoplasty of left cornea was performed. Visual acuity was 6/7.5 right and 6/21 left after surgery.

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene., Case Report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI , leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband., Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.

Familial amyloidotic polyneuropathy type IV, or Gelsolin amyloidosis (GA), is a rare condition caused by G654A or G654T mutation in gelsolin gene at 9q32-34. Gelsolin seems essential in many processes, including inflammation, cell motility, neural recovery, apoptosis and even carcinogenesis. So far reported from many European countries, USA, Japan, Iran and Brazil, GA is probably still underdiagnosed. The typical diagnostic triad includes corneal lattice dystrophy, progressive bilateral facial paralysis and cutis laxa. Patients present with progressive cranial and peripheral neuropathy, eye symptoms, usually mild proteinuria, and cardiac conductive disturbances with age. Central nervous system symptoms are rare. Gelsolin amyloid collection in tissues is widespread. To date, treatment is symptomatic. Regular check-ups with ophthalmologist are recommended. Plastic surgery relieves the functional symptoms caused by facial paralysis and loose, hanging facial skin. [ABSTRACT FROM AUTHOR]

Purpose: The R124C mutation of the TGFBI gene gives rise to lattice corneal dystrophy type I, which is characterized by irregularity, turbulence, and opacity of the corneal epithelium. We investigated the efficacy of corneal epithelial debridement followed by application of autologous fibronectin eye drops in the treatment of patients with this mutation. Methods: Four patients (6 eyes; age range 25-57 years) treated between April 2006 and March 2008 were enrolled in the study. All patients had impaired visual acuity and recurrent corneal erosion. Corneal epithelial debridement was performed with a spatula at the pupillary zone, after which eye drops containing fibronectin purified from autologous serum were administered four times daily for 2 weeks to promote epithelial migration. Topical levofloxacin and betamethasone were also applied four times daily for 1 month. Results: All corneas achieved resurfacing within a few days of debridement. The best corrected visual acuity of all eyes improved from an average logMAR of 0.80 (range 1.40 logMAR-0.52 logMAR) before treatment to a logMAR of 0.10 (range 0.30 logMAR-0.046 logMAR) by 2-4 months after debridement. Conclusion: Despite the limitation of this study setting, corneal epithelial debridement followed by administration of fibronectin eye drops seems to be effective in improving visual acuity in cases of lattice corneal dystrophy type I caused by the R124C mutation of the TGFBI gene. This treatment may be one option for temporarily improving visual acuity in lattice corneal dystrophy type I and thus may delay the requirement for phototherapeutic keratoplasty or keratoplasty. [ABSTRACT FROM AUTHOR]

Purpose: This paper reviews current knowledge about the pathogenesis, clinical manifestations and treatment of lattice corneal dystrophy, gelsolin type (LCD2, Meretoja’s syndrome). Methods: Material is derived from literature searches, a case study of a Finnish patient living in Sweden, and interviews in Helsinki with Professor Ahti Tarkkanen and Dr Sari Kiuru-Enari, both of whom have extensive first-hand experience in treating patients with the disease. Results: The disease is now reported from several countries in Europe, as well as Japan, the USA and Iran. Treatment is symptomatic and is based on eye lubrication combined with rigorous monitoring of intraocular pressure to reduce corneal haze and postpone the need for keratoplasty. When systemic symptoms occur, the ophthalmologist should consult other specialists. Conclusions: The disease is probably under-reported and is almost certainly to be found in more countries, including Sweden. Every ophthalmologist should be vigilant and consider this diagnosis when discovering a corneal lattice dystrophy, especially because the disease is an inherited, lifelong chronic condition with systemic symptoms. [ABSTRACT FROM AUTHOR]

The aim of the study was to investigate the histopathological and ultrastructural correlate of delayed epithelial healing in eyes with lattice corneal dystrophy (LCD). Corneal buttons from 4 patients with LCD (two with subepithelial, two with stromal amyloid deposits) and 2 control corneas were examined. Cell-matrix adhesion molecules and basement membrane components of the corneal epithelium were analyzed by immunohistochemistry and hemidesmosomes between epithelium and stroma were quantified by transmission electron microscopy (TEM). By TEM well-developed hemidesmosomes anchored the basal epithelial cells to the underlying basement membrane in all normal and LCD corneas. Hemidesmosome density was not significantly different in subepithelial (224.7 ± 34.1/100 µm) and stromal (234.3 ± 36.3/100 µm) LCD compared to controls (241.3 ± 26.8/100 µm). The basement membrane was interrupted in subepithelial, but continous in stromal LCD. Integrin α6 and ß4 staining formed a continous line along the basal surface of the corneal epithelium in control corneas, whereas it appeared discontinous and patchy both in subepithelial and stromal forms of LCD. Staining for αV integrin showed irregular staining patterns, i.e. enhanced labelling intensity in subepithelial and interrupted pattern in stromal LCD, respectively. Integrins α3, ß1, ß2, and ß5, dystroglycan, and plectin were not markedly different in dystrophic corneas. Type VII collagen showed a discontinuous staining in subepithelial forms of LCD. In stromal forms of LCD, type VII collagen staining occurred in additional patches underneath the epithelial basement membrane zone. Type XVII collagen staining was reduced in subepithelial LCD. Laminin-1, laminin-5 and laminin γ2 showed variable irregular staining patterns in dystrophic corneas with focal interruptions, focal thickenings, and reduplications of basement membrane. Some irregularities in corneas with subepithelial amyloid were observed for collagen types IV, V, and XVIII, laminin α1, α3, and γ1, nidogen-1 and -2, perlecan, fibrillin-1. Immunohistochemical and electron microscopic evidence of structural alterations was found in LCD compared to normal corneas concerning cell-matrix adhesion molecules and basement membrane components. These alterations were more pronounced in dystrophic corneas with subepithelial amyloid deposits than in those with stromal deposits. Histopathological findings may correspond to reduced cell-matrix interactions and partly explain delayed epithelial healing in patients with lattice corneal dystrophy. [ABSTRACT FROM AUTHOR]

The article presents the results of a clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy (LCD) and novel Thr538Pro mutation in the human transforming growth factor beta-induced gene (TGFBI). Multiple forms of LCD have been described, including LCD type I and LCD type IIIA. The analysis showed a novel mutation A-to-C transversion at position 1612 in the TGFBI gene in Chinese family with LCD type I. Four different single nucleotide polymorphisms in TGFBI gene were also identified.