ABSTRACT
PURPOSE: Mutations in the RS1 gene are known to cause retinoschisis, an X-linked hereditary retinal degeneration. Here, we present a case of atypical retinoschisis with clinical findings of retinoschisis and retinitis pigmentosa. METHODS: This report is an observational case report. The detailed ophthalmological examinations included visual field determination, multimodal imaging and electrophysiological recordings. Targeted next-generation sequencing of a retinal disease gene panel was performed. RESULTS: The 55-year-old male, highly hyperopic patient, presented with a best-corrected Snellen visual acuity of 20/100 in the right eye and 20/400 in the left eye. In the kinetic visual field, there was a superior scotoma, as well as a ring scotoma in the inferior hemisphere in the right eye and a concentric visual field constriction to 10° in the left eye. Funduscopy revealed marked pigmentary changes (i.e. bone spicules) in the mid-periphery bilaterally and symmetrically, as well as two small intra-retinal haemorrhages in the left eye. Full-field electroretinography recordings showed extinguished rod and cone responses. Diagnostic-genetic testing revealed a hemizygous missense mutation in the RS1 gene (c.305G > A; p.Arg102Gln) was identified. CONCLUSION: We present a case of atypical retinoschisis with clinical findings of retinitis pigmentosa.
Subject(s)
Eye Proteins/genetics , Mutation, Missense , Photoreceptor Cells, Vertebrate/physiology , Retinitis Pigmentosa/diagnosis , Retinoschisis/diagnosis , Retinoschisis/genetics , Electroretinography , Fluorescein Angiography , Fundus Oculi , Humans , Male , Middle Aged , Ophthalmoscopy , Retinitis Pigmentosa/physiopathology , Retinoschisis/physiopathology , Tomography, Optical Coherence , Visual Acuity/physiology , Visual Field Tests , Visual Fields/physiologyABSTRACT
PURPOSE: To study the precise structural aspects of a type 2 neovascular membrane in a patient with age-related macular degeneration (AMD) using optical coherence tomography (OCT) angiography and perform sequential quantitative analysis of the membrane after ranibizumab therapy. PATIENTS AND METHODS: Split-spectrum amplitude-decorrelation (SSADA) OCT angiography macular cubes (3 × 3 mm) were acquired with a light source centered at 840 nm, a bandwidth of 45 nm, and an A-scan-rate of 70 000 scans per second. Visible pathologic vessels were outlined manually on average intensity projection en face images, and the area of the lesion and the vessel density were measured at baseline and follow-up. RESULTS: At baseline, the neovascular lesion measured 4.12 mm(2) and the vessel density was 19.83 mm(-1). Four weeks after the first, and 2 and 4 weeks after the second ranibizumab injection, OCT angiography revealed a progressively smaller vascular lesion (2.32, 1.77 and 1.64 mm(2)), and vessel density (10.24, 8.52 and 7.57 mm(-1)), although the large central trunks of the lesion were unchanged. CONCLUSIONS: In this study, an obvious reduction in size and vessel density of the neovascular lesion was noted after treatment with ranibizumab using SSADA OCT angiography technology. Microvascular components can be delineated with precision, suggesting that this technique may be useful for the management of patients with neovascular AMD in a clinical setting as well as for future clinical trials.
