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Abstract Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive eye disease. GDLD is characterized by the loss of barrier function in corneal epithelial cells (CECs) and amyloid deposition due to pathogenic variants in the TACSTD2 gene. Limbal stem cell transplantation (LSCT) has been suggested as an effective therapeutic alternative for patients with GDLD. However, despite LSCT, amyloid deposition recurs in some patients. The pathogenesis of recurrence is poorly studied. We present the case of a patient with GDLD. Genetic analysis revealed a homozygous deletion, NM_002353.3:c.653del, in the TACSTD2 gene. Functional analysis in a cell model system revealed the loss of the transmembrane domain and subcellular protein mislocalization. The patient with GDLD underwent direct allogeneic LSCT with epithelial debridement followed by deep anterior lamellar keratoplasty 10 months later due to amyloid deposition and deterioration of vision. Taken together, the results of transcriptome analysis and immunofluorescence staining of post-LSCT corneal sample with amyloid deposits obtained during keratoplasty demonstrated complete restoration of wild-type TACSTD2 expression, indicating that donor CECs replaced host CECs. Our study provides experimental evidence that amyloid deposition can recur after LSCT despite complete restoration of wild-type TACSTD2 expression.

Purpose: To assess clinical outcomes of corneal cross-linking (CXL) intervention in a population diagnosed with progressive keratoconus. Methods: This single-center retrospective cohort study included consecutive patients who underwent standard CXL or accelerated CXL for progressive keratoconus at a major teaching hospital in southern Israel between January 2015 and December 2019. Patients’ medical files were reviewed, and pre-operative and post-operative data regarding demographics and clinical and tomographic characteristics were extracted and analyzed. Results: This study included 166 patients (representing 198 eyes), out of which 98 patients (123 eyes) were ethnically Bedouin, and 68 patients (75 eyes) were ethnically Jewish. Overall, 126 patients (144 eyes) had a follow-up of at least 12 months (16.84 ± 5.76). The mean patient age was 20.62 ± 7.1 years old. There were significant baseline differences between the two ethnic groups in best-corrected visual acuity (BCVA; p < 0.001), uncorrected visual acuity (UCVA; p < 0.001), mean keratometry (p = 0.028), and corneal thickness (p < 0.001). Significant changes in BCVA, UCVA, and pachymetry parameters within each group were found after 12 months. Negative binomial regression analysis showed a maximal keratometry below 55D (RR = 1.247, p < 0.001), and a standard CXL procedure (RR = 1.147, p = 0.041) are significantly related to the stability of KC after 12 months. However, the effect size of the origin of patients is negligible (RR = 1.047, p = 0.47). Conclusions: In this study, the Bedouin population suffered from more progressive keratoconus when compared to the Jewish population. CXL was significantly effective in improving BCVA and UCVA in both groups after 12 months of follow-up. The effect size of the origin of patients on the stability of KC was found to be negligible.

Abstract Background Keratoconus is a chronic degenerative disorder of the cornea characterized by thinning and cone-shaped protrusions. Although genetic factors play a key role in keratoconus development, the etiology is still under investigation. The occurrence of single-nucleotide polymorphisms (SNPs) associated with keratoconus in Russian patients is poorly studied. The purpose of this study was to validate whether three reported keratoconus-associated SNPs (rs1536482 near the COL5A1 gene, rs2721051 near the FOXO1 gene, rs1324183 near the MPDZ gene) are also actual for a Russian cohort of patients. Additionally, we investigated the COL5A1 promoter sequence for single-nucleotide variants (SNVs) in a subgroup of keratoconus patients with at least one rs1536482 minor allele (rs1536482+) to assess the role of these SNVs in keratoconus susceptibility associated with rs1536482. Methods This case-control study included 150 keratoconus patients and two control groups (main and additional, 205 and 474 participants, respectively). We performed PCR targeting regions flanking SNVs and the COL5A1 promoter, followed by Sanger sequencing of amplicons. The additional control group was genotyped using an SNP array. Results The minor allele frequency was significantly different between the keratoconus and control cohorts (main and combined) for rs1536482, rs2721051, and rs1324183 (p-value

Abstract Late spontaneous in-the-bag intraocular lens (IOL) dislocation is a complication presenting 6 months or later after cataract surgery. We aimed to characterize the cells in the lens capsules (LCs) of 18 patients with spontaneous late in-the-bag IOL dislocation. Patients' average age was 82.6 ± 1.5 years (range 72–98), and most of them had pseudoexfoliation syndrome (PEX). Cells from the LCs were positive for myofibroblast (αSMA), proliferation (Ki-67, PCNA), early lens development/lens progenitor (SOX2, PAX6), chemokine receptor (CXCR4), and transmembrane (N-cadherin) markers, while negative for epithelial (E-cadherin) marker. Moreover, the cells produced abundant fibronectin, type I and type V collagen in the nearby extracellular matrix (ECM). During ex vivo cultivation of dislocated IOL-LCs in toto, the cells proliferated and likely migrated onto the IOL’s anterior side. EdU proliferation assay confirmed the proliferation potential of the myofibroblasts (MFBs) in dislocated IOL-LCs. Primary cultured lens epithelial cells/MFBs isolated from the LC of dislocated IOLs could induce collagen matrix contraction and continuously proliferated, migrated, and induced ECM remodeling. Taken together, this indicates that long-lived MFBs of dislocated IOLs might contribute to the pathogenic mechanisms in late in-the-bag IOL dislocation.

Introduction. Keratoconus is a progressive corneal disease commonly treated by collagen cross-linking (CXL). Accelerated protocols have recently become common. This study sought to compare the outcomes of accelerated and standard CXL in terms of visual acuity, keratometry, and tomographic parameters in pediatric population. Methods. We retrospectively reviewed the files of pediatric patients who underwent standard and accelerated CXL for keratoconus in our hospital, between October 2014 and March 2018. Changes in uncorrected distance visual acuity (UCDVA), best corrected distance visual acuity (BCDVA), tomographic keratometry parameters (Kmax, Ksteep, Kflat, Kmean), and endothelial density count (EDC) were assessed before and at 6 and 12 months following treatment. The analysis included intergroup and intragroup comparisons. Results. This study included 53 eyes (44 patients). Fourteen eyes were treated with standard CXL (S-CXL, 3 mW/cm2, 30 min), while 39 underwent accelerated CXL (A-CXL, 9 mW/cm2, 10 min). Intergroup comparison found insignificant differences between groups, with the exception of better results for UCDVA in the S-CXL group after 12 months (P = 0.03). In this study, there was no significant difference between the two protocols postoperatively in BCDVA, Kmax, Kmean, pachymetry, or corneal astigmatism. Conclusion. A-CXL is as safe and effective as S-CXL for stabilizing progressive keratoconus in pediatric population. Larger-sample-size studies with a longer follow-up time are required. Considering the long-term results of 9 mW A-CXL and its safety and efficacy profile, it should be preferred to S-CXL for reducing treatment time and improving patients’ comfort.

Fuchs endothelial corneal dystrophy (FECD) is a bilateral inherited eye disease with advanced forms only treatable by corneal transplantation. The pathogenesis of FECD has not been worked out yet, however, trinucleotide repeat polymorphism CTG18.1 in the TCF4 gene has recently been associated with late-onset FECD. Gene expression profiling of corneal endothelium with and without this expansion can help elucidate molecular mechanisms of the disease development. Current data article represents whole transcriptome profiles of corneal endothelium obtained from 12 patients with FECD and 6 control tissues from eye bank donors. RNA sequencing data is available at NCBI Sequence Read Archive under Accession No. PRJNA524323. In addition, each patient and donor were genotyped for CTG18.1 expansion and the corresponding numbers of CTG repeats in the TCF4 gene are provided within this article. The dataset includes samples from FECD patients both with and without CTG18.1 expansion. Keywords: Fuchs endothelial corneal dystrophy, RNA-Seq, Transcriptome

The progressive deterioration of the visual function in patients on waiting lists for cataract surgery has a negative impact on their quality of life, especially in the elderly population. Patient waiting times for cataract surgeries in many healthcare settings have increased recently due to the prolonged stop or slowdown of elective cataract surgery as a result of coronavirus disease 19 (COVID-19). The aim of this review is to highlight the impact of such a “de-prioritization” of cataract surgery and to summarize some critical issues and useful hints on how to reorganize cataract pathways, with a special focus on perioperative diagnostic tools during the recovery phase and beyond. The experiences of a group of surgeons originating from nine different countries, named the European COVID-19 Cataract Group (EUROCOVCAT), have been combined with the literature and recommendations from scientific ophthalmic societies and healthcare institutions. Key considerations for elective cataract surgery should include the reduction of the number of unnecessary visits and examinations, adoption of precautionary measures, and implementation of telemedicine instruments. New strategies should be adopted to provide an adequate level of assistance and to guarantee safety conditions. Flexibility will be the watchword and regular updates would be necessary following scientific insights and the development of the pandemic.