RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome.

Purpose: Pseudoexfoliation syndrome (PEX) is a common systemic disease that results in severe and often irreversible vision loss. Despite considerable research effort, PEX remains incompletely understood. This study sought to perform the first RNAseq study in elucidate the pathophysiology of PEX, and contribute a publicly available transcriptomic data resource for future research. Methods: Human ocular lens capsular epithelium samples were collected from 25 patients with PEX and 39 non-PEX controls undergoing cataract surgery. RNA extracted from these specimens was subjected to polyadenylated (mRNA) selection and deep bulk RNA sequencing. Differential expression analysis investigated protein-coding gene transcripts. Exploratory analyses used pathway analysis tools, and curated class- and disease-specific gene sets. Results: Differential expression analysis demonstrated that 2882 genes were differentially expressed according to PEX status. Genes associated with viral gene expression pathways were among the most upregulated, alongside genes encoding ribosomal and mitochondrial respiratory transport chain proteins. Cell adhesion protein transcripts including type 4 collagen subunits were downregulated. Conclusions: This comparative transcriptomic dataset highlights novel and previously recognized pathogenic pathways in PEX and provides the first comprehensive transcriptomic resource, adding an additional layer to build further understanding of PEX pathophysiology.

Medium-term tamponade with vitrectomy and perfluorodecalin for the management of complex retinal detachments.

PURPOSE: To describe the clinical presentation, anatomical and visual outcome of a series of patients in our department with complex retinal detachments, managed with vitrectomy and perfluorodecalin (PFD) for medium-term tamponade. STUDY DESIGN: Retrospective case series. METHODS: Retrospective analysis of the medical records of all patients in the last 6 years presenting with complex retinal detachment managed with vitrectomy where PFD was used as a medium-term tamponade. RESULTS: A total of 85 eyes in 85 patients were included in the study, with a mean follow-up period of 16.0 ± 2.67 months (range 3-59). About 26 detachments presented with associated PVR-C, and 10 had giant retinal tears. The location of the retinal detachment was inferior in 40% of cases, and total in 18.9% of cases. Anatomical success, defined as retinal reattachment at 12 months, was achieved in 98.8% of cases, and there was a mean improvement in BCVA of logMAR 0.64 ± 0.20, which was statistically significant (p < 0.001, paired t-test 6.23). Of the 41 phakic eyes included in the study, 20 underwent cataract surgery within the follow-up period. CONCLUSION: In this case series, we have demonstrated a 98.8% anatomical success and significant improvement in BCVA, with no reports of retinal toxicity. Medium-term tamponade PFD appears to be an efficacious and safe technique for management of a variety of complex retinal detachments, including those secondary to GRT, the presence of PVR-C, inferior location, tractional, traumatic, and re-detachments.

Atypical presentation of Coats' Syndrome in facioscapulohumeral dystrophy - Reflecting the variation in phenotypic manifestations.

PURPOSE: To report a unique case of atypical Coats' Syndrome in an 80 year old female with facioscapulohumeral dystrophy. OBSERVATIONS: An 80 years old female was diagnosed clinically of retinal telangiectasia with exudation threatening the fovia. She received a successful macular laser photocoagulation with subsequent cessation of leakage. CONCLUSIONS AND IMPORTANCE: This case is in keeping with Coats' syndrome in fascioscapulohumeral dystrophy, which classically affects young male subjects - making this patient an obvious outlier. This once again reflects the variation in phenotypic manifestations of inherited disorders.

Short-pulse duration retinal lasers: a review.

The development of lasers for biological use was an important medical advance in the 20th century with numerous evidence-based therapeutic applications to retinal disease, including capillary leakage at the macula. Although the role of photocoagulative laser in the treatment of macular oedema has diminished, there is evidence for a modified role in clinical management, particularly for extrafoveal leakage. Additionally, it may reduce the frequency of required intravitreal injections and assist in visual stabilization when used as an adjunct. The tissue destructive effect of photocoagulative lasers has motivated the development of safer macular lasers and the search for novel therapeutic applications, including treatment of drusen and regeneration of dysfunctional retinal pigment epithelium.