Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA. Thirty individuals of a single kindred, including eight affected with LCA, were recruited for this study. Patients’ clinical data and electroretinography (ERG) findings were collected. Molecular analysis included homozygosity mapping with polymorphic markers and Sanger sequencing of candidate genes. Of the eight affected individuals of the kindred, nystagmus was documented in five subjects and keratoconus in three. Cataract was found in 5 of 16 eyes. Photopic and scotopic ERG performed in 5 patients were extinguished. All affected subjects were nearly blind, their visual acuity ranged between finger counting and uncertain light perception. Assuming autosomal recessive heredity of a founder mutation, studies using polymorphic markers excluded homozygosity of affected individuals at the genomic loci of all previously known genes associated with LCA, except GUCY2D. Sequencing of GUCY2D identified a novel missense mutation (c.2129C>T; p.Ala710Val) resulting in substitution of alanine by valine at position 710 within the protein kinase domain of the retina-specific enzyme guanylate cyclase 1 (GC1) encoded by GUCY2D. Molecular modeling implied that the mutation changes the conformation of the regulatory segment within the kinase styk-domain of GC1 and causes loss of its helical structure, likely inhibiting phosphorylation of threonine residue within this segment, which is needed to activate the catalytic domain of the protein. This is the first documentation of the p.Ala710Val mutation in GC1 and the second ever described mutation in its protein kinase domain. Our findings enlarge the scope of genetic variability of LCA, highlight the phenotypic heterogeneity found amongst individuals harboring an identical LCA mutation, and possibly provide hope for gene therapy in patients with this congenital blinding disease. As the Bedouin kindred studied originates from Saudi Arabia, the mutation found might be an ancient founder mutation in that large community.

This retrospective study evaluates the effectiveness of combining 0.05% atropine with MF60 contact lenses in managing rapid myopia progression in children over one year. The study involved three groups: the treatment group (TG) with 15 children (53% male, average age 12.9 ± 1.04), the MF group (MF) with 12 children (50% male, average age 12.8 ± 0.8) using only MF60 lenses, and the control group (CG) with 14 children (43% male, average age 12.1 ± 0.76). Baseline myopia and axial length (AL) were similar across groups, with the TG, MF, and CG showing −4.02 ± 0.70 D, −4.18 ± 0.89 D, −3.86 ± 0.99 D, and 24.72 ± 0.73 mm, 24.98 ± 0.70 mm, 24.59 ± 1.02 mm, respectively. Prior to the study, all groups exhibited significant myopia and AL progression, with no previous myopia control management. The treatment involved daily 0.05% atropine instillation, the use of MF60 lenses and increased outdoor activity. Biannual cycloplegic refraction and slit lamp evaluations confirmed no adverse reactions. After one year, the TG showed a significant reduction in myopia and AL progression (−0.43 ± 0.46 D, p < 0.01; 0.22 ± 0.23 mm, p < 0.01), whereas the CG showed minimal change (−1.30 ± 0.43 D, p = 0.36; 0.65 ± 0.35 mm, p = 0.533). The MF group also exhibited a notable decrease (−0.74 ± 0.45 D, p < 0.01; 0.36 ± 0.23 mm). Increased outdoor activity during the treatment year did not significantly impact myopia control, suggesting its limited additional effect in this cohort. The study concludes that the combination of 0.05% atropine and peripheral defocus soft contact lenses effectively controls myopia progression in children.

Objectives: This study evaluated the therapeutic potential of topical Ripasudil hydrochloride hydrate in managing various forms of corneal edema. Methods: This retrospective study included 96 patients of 72.20 ± 10.52 years, with 53 females (55.2%) who were treated with Ripasudil for corneal edema, with a mean treatment duration of 5.2 ± 2.3 months, divided into four groups: post-cataract surgery (n = 32), Fuchs endothelial corneal dystrophy (FECD; n = 29), post-Descemet membrane endothelial keratoplasty (DMEK; n = 25), and post-penetrating keratoplasty (PKP; n = 10). All patients were treated with Ripasudil, typically administered three times daily in the first week and twice daily in the following months. Clinical efficacy outcomes were assessed using changes in best-corrected visual acuity (BCVA), central corneal thickness (CCT), and endothelial cell count (ECC) with specular microscopy, anterior segment optical coherence tomography (OCT), and slit-lamp examination, while intraocular pressure (IOP) was measured using the iCare tonometer. Results: Ripasudil treatment led to a reduction in CCT and improvement in visual acuity across most groups, with minimal changes in ECC. CCT decreased by 30.44 μm (p < 0.001), 25.56 μm (p < 0.001), 8.41 μm (p = 0.05), and 6.80 μm (p > 0.1); visual acuity improved by 0.27 (p = 0.001), 0.18 (p = 0.02), 0.17 (p = 0.025), and 0.07 logMAR units (p > 0.1); and ECC changed by +7.0 (p > 0.1), 15.4 (p > 0.1), −7.6 (p > 0.1), and 2.3 cells/mm² (p > 0.1) in the post-cataract surgery, FECD, post-DMEK, and post-PKP groups, respectively. Conclusions: No adverse events or progression of edema were recorded during the follow-up period. These findings support the role of Ripasudil as a non-invasive pharmacological approach to managing corneal edema and delaying or possibly avoiding surgical interventions, such as corneal transplantation, in selected cases.

This retrospective comparative study analyzes the early postoperative impact of laser vision correction for myopia on the optical quality and stability of functional vision using a double-pass aberrometer. Retinal image quality and visual function stability were assessed preoperatively, one and three months after myopic laser in situ keratomileuses (LASIK) and photorefractive keratectomy (PRK) using double-pass aberrometry (HD Analyzer, Visiometrics S.L, Terrassa, Spain). The parameters analyzed included vision break-up time (VBUT), objective scattering index (OSI), modulation transfer function (MTF), and Strehl ratio (SR). The study included 141 eyes of 141 patients, of whom 89 underwent PRK and 52 underwent LASIK. No statistically significant differences were noted between the two techniques in any analyzed parameters at three months postoperatively. However, a significant drop was observed in all parameters one month after PRK. Only the OSI and VBUT remained significantly altered from baseline at the three months follow-up visit, with an increased OSI by 0.14 +/− 0.36 (p < 0.01) and a shortened VBUT by 0.57 +/− 2.3 s (p < 0.01). No correlation was found between the changes in optical and visual quality parameters and age, ablation depth, or postoperative spherical equivalent. The stability and quality of the retinal images were similar between LASIK and PRK at three months postoperatively. However, significant degradation in all parameters was found one month after PRK.

Purpose: The aim of this study was to identify risk factors for the loss of corrected distance visual acuity (CDVA) after uncomplicated hyperopic laser-assisted in situ keratomileusis (LASIK). Methods: A retrospective study including hyperopic patients who underwent microkeratome-assisted LASIK between January 2000 and December 2019 at Care-Vision Laser Centers, Tel-Aviv, Israel. Loss of CDVA was defined as ≥ 2 lines (0.20 logarithm of the minimum angle of resolution [logMAR] increase). Excluded were patients who had loss of CDVA because of intraoperative or postoperative complications or developed cataract at their final visit. Results: Overall, 1998 eyes of 1998 patients were included in the study, of which 35 eyes (1.75%) had CDVA loss at final follow-up (mean 387 days). The vision-loss group had a significantly greater spherical treatment (3.4 vs. 2.8 D, P = 0.02), ablation depth (69.4 vs. 53.8 μm, P = 0.01), a higher proportion of treatments with a smaller optic zone (6.0 mm) (31.4% vs. 13.4%, P = 0.002), treatment with the EX200 (Alcon) excimer rather than the EX500 (Alcon) (74.3% vs. 39.0%, P < 0.001), and treatment with the Moria M2-90 microkeratome rather than the Moria Sub-Bowman’s keratomileusis (SBK) microkeratome (65.7% vs. 29.6%, P < 0.001). In multivariate binary logistic regression, factors that remained significant predictors of CDVA loss were a greater spherical treatment (per 1 D treatment, odds ratio = 1.42, 95% CI, 1.11–1.81, P = 0.004) and the use of the Moria M2-90 microkeratome (odds ratio = 4.66, 95% CI, 2.30–9.45, P < 0.001). Conclusions: In patients undergoing uncomplicated hyperopic LASIK, a greater spherical hyperopic treatment is associated with a higher risk for vision loss. Transition to a newer microkeratome model significantly reduced vision loss rate.

Introduction: The current case series presents the triangular suture technique (TST) for managing intraocular lens (IOL) subluxation in pseudoexfoliation (PXF) syndrome patients, a condition increasing the risk of IOL dislocation post-cataract surgery. The series includes three PXF patients treated with TST for dislocated IOLs. Case description: The first case is an 88-years old woman with recurrent IOL dislocation post-Hoffman pocket fixation. TST resulted in successful IOL centration and significant visual acuity improvement, with uncorrected visual acuity (UCVA) improving from 6/60 to 6/15 and best-corrected visual acuity (BCVA) reaching 6/7.5 at three months. The surgery took 21 min with no major complications. The second case involves a 90-year-old man with posterior IOL dislocation and poor vision (UCVA of counting fingers at 1 meter). TST achieved good IOL repositioning and improved BCVA to 6/20 at three weeks. The last case presents an 82 years old woman with PXF and glaucoma, experiencing IOL subluxation post-traumatic cataract surgery. TST successfully centralized the IOL, improving non-corrected visual acuity from 6/30 to 6/10 at six weeks, and BCVA to 6/6.67 at four years. Intraocular pressure remained well-controlled. Conclusions: This series highlights TST as an effective and safe solution for IOL subluxations in PXF patients, with successful outcomes in all cases. TST offers ease of learning and faster execution, suitable for anterior segment surgeons without extensive vitreoretinal experience. Further studies are needed to confirm the long-term efficacy and safety of TST, ideally involving larger cohorts and longer follow-ups.