An uncommon presentation of WAGR syndrome with persistent fetal vasculature.

Aniridia is an autosomal dominant congenital malformation associated with mutations in the PAX6 gene. It can be associated with deletion in the contiguous WT1 gene, leading to WAGR syndrome, characterized by Wilm tumor, aniridia, genitourinary anomalies, and mental retardation. Persistent fetal vasculature is a developmental malformation caused by incomplete regression of hyaloid vasculature. Most cases of persistent fetal vasculature occur sporadically; however, some inherited forms are described. We report a case of genetically confirmed WAGR associated with congenital cataract and persistent fetal vasculature.

Comparative proteomics of proliferative diabetic retinopathy in people with Type 2 diabetes highlights the role of inflammation, visual transduction, and extracellular matrix pathways.

Purpose: To explore the vitreous humor proteome from type 2 diabetes subjects with proliferative diabetic retinopathy (PDR) in the Indian population. Methods: We performed mass spectrometry-based label-free quantitative analysis of vitreous proteome of PDR (n = 13) and idiopathic macular hole (IMH; control) subjects (n = 14). Nine samples of PDR and 10 samples of IMH were pooled as case and control, respectively, and compared. Four samples each of PDR and IMH were analyzed individually without pooling to validate the results of the pooled analysis. Comparative quantification was performed using Scaffold software which calculated the fold changes of differential expression. Bioinformatics analysis was performed using DAVID and STRING software. Results: We identified 469 proteins in PDR and 517 proteins in IMH vitreous, with an overlap of 172 proteins. Also, 297 unique proteins were identified in PDR and 345 in IMH. In PDR vitreous, 37 proteins were upregulated (P < 0.05) and 19 proteins were downregulated compared to IMH. Protein distribution analysis clearly demonstrated a separation of protein expression in PDR and IMH. Significantly upregulated proteins included fibrinogen gamma chain, fibrinogen beta chain, and carbonic anhydrase 1 and downregulated proteins included alpha-1-antitrypsin, retinol-binding protein 3, neuroserpin, cystatin C, carboxypeptidase E and cathepsin-D. Conclusion: Diabetic retinopathy pathogenesis involves proteins which belong to inflammation, visual transduction, and extracellular matrix pathways. Validation-based experiments using enzyme-linked immunosorbent assay (ELISA) or western blotting are needed to establish cause and effect relationships of these proteins to the disease state, to develop them as biomarkers or drug molecules.

Bilateral Central Retinal Vein Occlusion in a Neonate.

AIM: To report the management of a neonate who presented with simultaneous bilateral central retinal vein occlusion (CRVO) secondary to septicemia. DESIGN: Case Report. RESULTS: A full-term infant was treated for neonatal sepsis with thrombocytopenia. He presented with poorly dilating pupil, disc edema, dilated retinal veins, perivascular exudation, retinal hemorrhages in all four quadrants radiating from the optic nerve to the ora serrata (no Roth spots), with cystoid macular edema (CME) in both the eyes. His TORCH serology was negative and peripheral blood film was normal. He was diagnosed as presumptive bilateral inflammatory CRVO with CME secondary to septicemia. He received bilateral intravitreal bevacizumab injections. After the injection, his pupils dilated completely while retinal hemorrhages and CME reduced. CONCLUSION: CRVO may present as a rare complication in neonates suffering from septicemia. Apart from the systemic treatment, aggressive ocular treatment is needed to salvage the eyes with severe ischemia.

Post-cataract Surgery Fungal Endophthalmitis: Management Outcomes and Prognostic Factors.

Purpose: To describe the clinical and microbiological features, management outcomes, and prognostic factors of visual improvement in post-cataract surgery fungal endophthalmitis.Methods: We evaluated 17 patients with culture-confirmed fungal endophthalmitis following cataract surgery. Data were collected regarding intravitreal antibiotics and antifungals, pars plana vitrectomy (PPV), intraocular lens (IOL) explantation, and scleral-fixated IOL (SFIOL) implantation. Clinical outcomes were recorded in terms of visual acuity and management strategies.Results: PPV was performed as a primary procedure at first presentation in three eyes. Fourteen eyes (82.3%) received intravitreal voriconazole. IOL explantation was performed in four eyes, followed by an SFIOL implantation in three eyes. Six eyes additionally presented with keratitis. At the final follow-up, cases having visual acuity ≥6/60 doubled from 17.6% to 35.3%. Eyes receiving antifungals had a trend toward worse visual outcome.Conclusions: Corneal involvement in addition to endophthalmitis and the presence of Aspergillus terreus were found to be poor prognostic markers.

Imaging of Muller cell sheen dystrophy.

To report a rare case of Muller cell sheen dystrophy and to describe its clinical and diagnostic aspects. A 42-year-old woman presented with unilateral defective vision. Fundus evaluation revealed bilateral glistening retinal reflexes throughout the posterior pole with a wrinkled appearance in the right. Spectral Domain-OCT in the right showed abnormal internal limiting membrane, intraretinal schisis with serous detachment at macula. Angiography revealed staining along vessels. Electroretinogram in the affected eye was negative. At 4 months of follow up, vision dropped and intraretinal schisis increased. Family screening was negative.

Comparative study of inverted internal limiting membrane (ILM) flap and ILM peeling technique in large macular holes: a randomized-control trial.

BACKGROUND: The anatomical success rate of macular hole surgery ranges around 93-98%. However, the prognosis of large macular holes is generally poor. The study was conducted to compare the anatomical and visual outcomes of Internal Limiting Membrane (ILM) peeling vis-a-vis inverted ILM flap for the treatment of idiopathic large Full-Thickness Macular Holes (FTMH). METHODS: This was a prospective randomized control trial. The study included patients with idiopathic FTMH, with a minimum diameter ranging from 600 to 1500 µm. The patients were randomized into Group A (ILM peeling) and Group B (inverted ILM flap). The main outcome measures were anatomical and visual outcome at the end of 6 months. Anatomical success was defined as flattening of macular hole with resolution of the subretinal cuff of fluid and neurosensory retina completely covering the fovea. RESULTS: There were 30 patients in each group. The mean minimum diameters in Group A and B were 759.97 ± 85.01 µm and 803.33 ± 120.65 µm respectively (p = 0.113). The mean base diameter in group A and B was 1304.50 ± 191.59 µm and 1395.17 ± 240.56 µm respectively (p = 0.112). The anatomical success rates achieved in Group A and B were 70.0 and 90.0% respectively (p = 0.125). The mean best-corrected visual acuity (BCVA) after 6 months was logMAR 0.65 ± 0.25 (Snellen equivalent, 20/89) in Group A and logMAR 0.53 ± 0.20 (Snellen equivalent, 20/68) in Group B (p = 0.060). The mean improvement in BCVA was 1.4 lines and 2.1 lines in groups A and B respectively (p = 0.353). BCVA≥20/60 was achieved by 13.3 and 20.0% in group A and B respectively (p = 0.766). CONCLUSION: The anatomical and functional outcome of Inverted ILM flap technique in large FTMH is statistically similar to that seen in conventional ILM peeling. TRIAL REGISTRATION: Clinical Trials Registry - India (Indian Medical Research) CTRI/2017/11/010474 .