Simple limbal epithelial transplantation for recurrent pterygium: A case series

Purpose: Pterygium recurrence is a common complication of pterygium removal. Multiple surgical and medical approaches have been utilized to reduce recurrence rates. The present case series proposes a novel way to treat recurrent pterygia, by using the simple limbal epithelial transplantation (SLET) technique. Observations: The cases of four patients who presented with recurrent pterygium were reviewed. In all four of the cases reported, the SLET procedure went without complication. There were no significant recurrences at each of the patient's most recent follow-up visits. Conclusions and importance: This is the first report of SLET being used as a treatment modality for recurrent pterygium. Further studies are required to more reliably demonstrate the utility of the procedure in this clinical circumstance, but our results are encouraging that in select patients, this may be a viable option in treating aggressive recurrent pterygia. Keywords: Simple limbal epithelial transplantation (SLET), Recurrent pterygium, Cornea, Conjunctiva, Stem cell

Bilateral BrightOcular iris implants necessitating explantation and subsequent endothelial keratoplasty

Purpose: To demonstrate the dangers associated with the BrightOcular iris implant, a model that had initially been touted as safer than its predecessors. Observations: A 41-year-old male presented with decreased vision in both eyes, approximately two years following bilateral BrightOcular cosmetic iris implantation performed in Mexico. On initial consultation, he was found to have bilateral corneal decompensation with stromal edema and a significantly reduced endothelial cell count (ECC). On follow up 5 weeks later, his vision and corneal edema had further detriorated. In the following month, he underwent explantation of the cosmetic iris implants in both eyes. Significant corneal edema persisted in the right eye several months post-operatively, to the point of necessitating endothelial keratoplasty. Conclusions and importance: Despite numerous reports in the literature of the significant ocular complications that can arise secondary to cosmetic iris implantation, individuals continue to willingly undergo this surgery. Our intention with presenting this case to the ophthalmologic community is two-fold: to highlight the ongoing clinical risk that BrightOcular devices pose, despite being marketed as safer than the older NewColourIris models, and to stress the urgency with which cosmetic iris implants should be removed from the eye. Keywords: Cosmetic iris implants, BrightOcular, Iris implant removal, Corneal decompensation, Endothelial keratoplast

Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration

Purpose: To identify rare genetic variants in early age-related macular degeneration (AMD) utilizing whole-exome sequencing (WES). Methods: Eight non-related early-AMD families of different Jewish ethnicities were ascertained. Initial mutation screening (phase-1) included common complement factor-H (CFH) p.Y402H; and age related maculopathy susceptibility 2 (ARMS2) p.A69S; and rare variants complement factor-I (CFI) p.V412M; and hemicentin1 (HMCN1) c.4163delC identified previously in our population. Four families, whose initial screening for the aforementioned variants was negative, underwent WES (phase-2). Bioinformatics filtering was based on functionality (from a panel of 234 genes with proven or presumed association to AMD); predicted severity; and frequency (rare variants with minor allele frequency <1%). When applicable, further screening for specific rare variants was carried out on additional cases of similar ethnicities and phenotypes (phase-3). Results: Phase-1 identified three families carrying CFI p.V412M mutation. WES analysis detected probable disease-related variants in three out of the remaining families. These included: a family with a variant in PLEKHA1 gene p.S177N; a family with previously reported variant p.R1210C in CFH gene; and two families with the C3 p.R735W variant. Conclusions: Rare, high-penetrance variants have a profound contribution to early-AMD pathogenesis. Utilization of WES in genetic research of multifactorial diseases as AMD, allows a thorough comprehensive analysis with the identification of previously unreported rare variants

The Definition-Dependent Nature of Myopia Prevalence: A Nationwide Study of 1.5 Million Adolescents

The application of myopia definition varies considerably within the literature. The purpose of this study was to examine the relationship between different myopia and high myopia definitions and resultant prevalence estimates. A population-based cross-sectional study of 1,588,508 Israeli adolescents assessed for medical fitness before mandatory military service at the age of 17 years between 1993 through 2015. Participants underwent non-cycloplegic autorefraction. Nine definitions of myopia and seven definitions of high myopia were examined. Prevalence estimates for each definition were calculated and compared with the reference definition (right eye spherical equivalent (SE)≤-0.50D and ≤-6.00D for myopia and high myopia, respectively), to yield a rate ratio (RR) across definitions. Applying the right eye SE≤-0.50D reference definition yielded 31.0% myopia prevalence. While some definitions resulted in similar prevalence estimates, using the right eye SE of ≤-0.75D; ≤-1.00D or least minus meridian of ≤-0.75D definitions yielded 28.8%, 26.3%, and 26.9% myopia prevalence, respectively, which corresponded to a 7.1%, 15.1% and 13.4% reduction in myopia RR, respectively. The prevalence of high myopia demonstrated considerable alternations, with a 1.7-fold increase in prevalence for the narrower threshold of SE≤-5.00D compared with SE≤-6.00D reference definition (4.2% and 2.4%, respectively). The prevalence of myopia and especially high myopia varies between frequently applied definitions, considering diverse thresholds, eye lateralization, and spherical vs. astigmatic refractive components. This variability highlights the pressing need for standardization of myopia definition in ophthalmic research. The results of this study provide crude estimates of a “conversion rate” across data, allowing comparisons between studies that utilize different myopia definitions.</p

Association of Variants in TMEM45A With Keratoglobus

IMPORTANCE: Keratoglobus is a rare corneal disorder characterized by generalized thinning and globular protrusion of the cornea. Affected individuals typically have significantly decreased vision and are at risk of corneal perforation. The genetic basis and inheritance pattern of isolated congenital keratoglobus are currently unknown. OBJECTIVE: To identify the genetic basis of isolated congenital keratoglobus. DESIGN, SETTING, AND PARTICIPANTS: This case series and molecular analysis studied 3 unrelated nonconsanguineous families with keratoglobus at a medical center in Israel. Data were collected from June 2019 to March 2021 and analyzed during the same period. EXPOSURES: Whole-exome sequencing and direct Sanger sequencing, expression analysis by real-time polymerase chain reaction, splice-site variant analysis, immunohistochemical staining, and histological evaluation of a knockout mouse model. MAIN OUTCOMES AND MEASURE: Molecular characteristics associated with keratoglobus. RESULTS: Four pediatric patients (3 male individuals) from 3 families had clinical findings consistent with keratoglobus. These included globular protrusion, corneal thinning more prominent at the periphery, and high astigmatism. Truncating and splice site variants were identified in the TMEM45A gene, which fully segregate with the disorder. All affected individuals were homozygous or compound heterozygous for variants in the TMEM45A gene, while unaffected family members were heterozygous carriers. Expression analysis in healthy controls showed that TMEM45A was expressed 23 times higher in the human cornea compared with peripheral blood. Immunohistochemical staining of the TMEM45A protein in normal corneas confirmed its expression in the corneal stroma and epithelium. A TMEM45A knockout mouse model showed structural features consistent with keratoglobus. CONCLUSIONS AND RELEVANCE: Expression of TMEM45A has been previously shown to result in upregulation of extracellular matrix components and fibrosis. These results suggest that isolated congenital keratoglobus is an autosomal recessively inherited disorder associated with variants in the TMEM45A gene