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Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Indian J Ophthalmol
June 2024
Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, India.
Purpose: Retinoschisis is a distinctive condition characterized by intraretinal layer clefts, primarily associated with X-linked recessive inheritance due to RS1 gene mutations. This study aims to uncover the RS1 mutation spectrum in a cohort of 22 X-linked retinoschisis cases from South India and emphasizes the genotypic and phenotypic associations within patients harboring only RS1 mutations.
Methods: A total of 22 probands were suspected of having X-linked retinoschisis.
Foveal Microstructure and Visual Outcomes after Pars Plana Vitrectomy in Patients with Different Types of Epiretinal Membrane Foveoschisis.
Ophthalmic Res
April 2024
Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Ophthalmology and Visual Science Key Laboratory, Capital Medical University, Beijing, China.
Introduction: The aim of this study was to evaluate the clinical characteristics and surgical outcomes of the epiretinal membrane foveoschisis (ERM-FS) with different morphological types.
Methods: This retrospective observational study reviewed 44 consecutive ERM-FS patients who underwent ERM surgery. According to the optical coherence tomography images, ERM-FS was classified into three groups: group A, FS crossed the fovea with the foveola elevated; group B, FS located at the foveal edges with a near-normal central foveal point thickness; and group C, FS with undermined foveal edges with a near-normal central foveal point thickness.
EPIRETINAL MEMBRANE WITH FOVEAL HERNIATION: Visual and Surgical Outcomes.
Retina
February 2023
Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
Purpose: Foveal herniation occurs when neuroretinal tissue protrudes through and above the level of an epiretinal membrane. This study describes the visual symptoms and spectral domain optical coherence tomography findings associated with foveal herniation and evaluates the postoperative visual, anatomical, and surgical outcomes.
Methods: A multicenter retrospective review of patients diagnosed with epiretinal membrane identified 59 patients with preoperative foveal herniation on spectral domain optical coherence tomography.
Association of Retinal Sensitivity With Optical Coherence Tomography Microstructure in Highly Myopic Patients.
Invest Ophthalmol Vis Sci
October 2022
Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
Purpose: To investigate the association of retinal sensitivity with microstructural features in optical coherence tomography (OCT) of high myopic eyes.
Methods: This cross-sectional study included 78 eyes (78 patients). Microstructural features on spectral-domain OCT, such as the integrity of the retinal pigment epithelium (RPE), ellipsoid zone (EZ), and external limiting membrane (ELM) and outer retinoschisis, were evaluated at each retinal location corresponding to microperimetric testing points.
Single-capture ultra-widefield guided swept-source optical coherence tomography in the management of rhegmatogenous retinal detachment and associated peripheral vitreoretinal pathology.
Br J Ophthalmol
September 2023
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada
Background/aim: To assess the utility of single-capture ultra-widefield confocal scanning laser ophthalmoscope with integrated swept-source optical coherence tomography (UWF-SS-OCT) in the management of rhegmatogenous retinal detachment (RRD) and associated peripheral pathology.
Methods: 138 eyes of 101 consecutive patients with RRD and/or associated peripheral pathology at a vitreoretinal practice in Toronto, Canada between December 2020 and February 2021 that had UWF-SS-OCT with interpretable scans were included. A 200 degree fundus photograph was used to navigate a built-in 100 kHz UWF-SS-OCT to image pathology with a high-density 23 mm line scan and/or volume scan.
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