NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION.

PURPOSE: To describe a case of nonsyndromic retinitis pigmentosa caused by presumed compound heterozygous A615T and T522M mutations in HGSNAT, characterized by bilateral cystoid macular edema and retinal neovascularization. METHODS: Case report. The patient underwent clinical evaluation, multimodal imaging, and next-generation panel sequencing. In silico analysis was performed with PolyPhen-2, SIFT, and MutationTaster. Segregation analysis was not available. RESULTS: A 35-year-old hypertensive man presented with nyctalopia, photopsia, and difficulty reading for six months. He had no family history of visual deficits. The best-corrected visual acuity was 20/25 in the right eye and 20/20 in the left eye. Examination revealed midperipheral bone spicules and macular neovascularization in both eyes. Multimodal imaging demonstrated cystoid macular edema, ellipsoid band loss outside the central macula, and leakage from the neovascularization in both eyes. Sequencing detected four mutations in three genes, including two heterozygous mutations in HGSNAT (c.1843G>A, p.A615T and c.1565C>T, p.T522M). A615T is a pathogenic, hypomorphic mutation. T522M has not been previously phenotypically described. It is predicted damaging by in silico analysis and occurs at a conserved position near the eighth transmembrane domain, adjacent to residues in which missense mutations result in protein misfolding. CONCLUSION: This is, to the best of our knowledge, the first reported case of retinal neovascularization in a case of nonsyndromic retinitis pigmentosa due to HGSNAT mutation. The T522M variant likely functions as a severe mutation alongside the hypomorphic A615T mutation. These findings expand the genotypic and phenotypic spectrum of nonsyndromic retinitis pigmentosa.

CATASTROPHIC, BILATERAL RETINAL VASCULAR OCCLUSION AFTER INTRAVITREAL BEVACIZUMAB INJECTION.

PURPOSE: To describe two cases of catastrophic, bilateral retinal vascular occlusion after intravitreal (IVT) bevacizumab injection. METHODS: Case series. Main outcome measures included clinical and fluorescein angiography findings. RESULTS: Case 1-A 65-year-old woman with calcinosis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasis syndrome developed acute, severe, bilateral visual loss 2 weeks after bilateral IVT bevacizumab injection for proliferative diabetic retinopathy. Examination and fluorescein angiography revealed moderate anterior chamber inflammation, bilateral perivascular retinal hemorrhages, and near total retinal vascular occlusion. Extensive testing revealed moderately elevated anti-B2 glycoprotein (antiphospholipid) antibodies. Case 2-An 85-year-old man with polymyalgia rheumatica and left eye exudative age-related macular degeneration experienced severe, bilateral, sequential visual loss in the left eye and then right eye approximately 3 weeks after IVT bevacizumab left eye injection. Examination revealed bilateral panuveitis, diffuse perivascular exudates, and intraretinal hemorrhages. Fluorescein angiography showed diffuse venous leakage. Extensive testing revealed an elevated antinuclear antibody and mildly elevated anticardiolipin antibody. CONCLUSION: Patients with underlying retinal vascular vulnerabilities may be at increased risk of catastrophic, bilateral retinal vascular occlusion after treatment with IVT bevacizumab. The moderate-to-severe intraocular inflammation in both cases and the contralateral involvement after unilateral IVT injection in Case 2 suggest a possible delayed immune-mediated mechanism.

Central Retinal Thickness and Visual Acuity Outcomes After Vitrectomy for Epiretinal Membrane With and Without Internal Limiting Membrane Peel.

Purpose: This work compares best-corrected visual acuity (BCVA) and central retinal thickness (CRT) outcome measures following pars plana vitrectomy (PPV) with and without internal limiting membrane (ILM) peel for epiretinal membrane (ERM). Methods: A retrospective cohort study was conducted of 114 eyes of 114 patients with visually significant ERM undergoing PPV with membrane peel (PPV/MP) at a single institution. CRT measurements were collected from Heidelberg and Zeiss spectral-domain optical coherence tomography imaging units. Results compared preoperative and postoperative CRT and BCVA among patients with at least 60 days of follow-up. Results: A total of 114 eyes with ERM met the inclusion criteria. Eighty-one eyes (71%) underwent PPV/MP with ILM peel and 33 eyes (29%) underwent PPV/MP without ILM peel. There was no statistically significant difference between preoperative CRT between the 2 study groups (P = .95). The mean follow-up time of eyes undergoing PPV/MP without ILM peel and with ILM peel was 391 days and 319 days, respectively. There was no statistical difference in the mean reduction of CRT between the 2 groups (P = .470). Both groups had improvement of BCVA following surgery and there was no statistical difference in final logMAR visual acuity when comparing the 2 groups (P = .738). Conclusions: There was an overall improvement of CRT and BCVA among patients undergoing PPV/MP for ERM with or without ILM peel. There was no statistically significant difference in the final BCVA or CRT between the 2 groups.