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X-linked retinoschisis: About a case
Archivos de la Sociedad Española de Oftalmología (English Edition), 2022X-linked retinoschisis (XLR) is a cause of retinal degeneration that affects males at an early age. X-linked disorders classically affect only males. We present the case of a 10-year-old female with the full spectrum of the pathology. BCVA 0.7 OU. Optical coherence tomography (OCT) showed bilateral foveal alteration with cystic appearance.
E, Pineda-Garrido +3 more
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New OCT sign in X-linked retinoschisis without macular schisis: "Inverted roof fovea".
Archivos de la Sociedad Española de OftalmologíaWe present the case of a 52-year-old man with a stable ophthalmological follow-up for the last 10 years. Clinically asymptomatic, except for floaters in both eyes.
P. B. Blasco Palacio +2 more
semanticscholar +1 more source
Retina
PURPOSE To provide a quantitative assessment of the primary retinal layers affected by macular cystoid spaces in X-linked retinoschisis (XLRS) and enhanced S-cone syndrome (ESCS).
Jason C. Park +3 more
semanticscholar +1 more source
PURPOSE To provide a quantitative assessment of the primary retinal layers affected by macular cystoid spaces in X-linked retinoschisis (XLRS) and enhanced S-cone syndrome (ESCS).
Jason C. Park +3 more
semanticscholar +1 more source
Congenital X-linked Retinoschisis (CXLRS) in Indian population. A single center study in 70 eyes.
American journal of ophthalmology-glaucomaBACKGROUND To study and analyze the demographics, clinical features and surgical indications in Congenital X-linked Retinoschisis (CXLRS) in Indian population. DESIGN Retrospective case series.
Abhishek Das +4 more
semanticscholar +1 more source
Ophthalmic Genetics
Introduction In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient’s age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were
Péter Király +3 more
semanticscholar +1 more source
Introduction In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient’s age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were
Péter Király +3 more
semanticscholar +1 more source
Retinal Detachment in X-Linked Retinoschisis
New England Journal of Medicine, 2020Retinal Detachment in X-Linked Retinoschisis A 19-year-old man with X-linked retinoschisis presented with worsening vision in his right eye.
Yunjeong Lee, Baek-Lok Oh
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Juvenile X-Linked Retinoschisis: Ocular Genetic Studies
Güncel Retina Dergisi (Current Retina Journal)Juvenile X-linked retinoschisis (JXLR, OMIM 312700) is an inherited retinal disorder characterized by X-linked inheritance, primarily affecting males and leading to severe vision loss starting in childhood.
A. Beyoğlu +2 more
semanticscholar +1 more source
OCT Angiography in X-Linked Retinoschisis.
JAMA ophthalmologyThis case report provides a description of bullous retinoschisis using swept-source optical coherence tomography (OCT) in a 13-year-old boy diagnosed with X-linked retinoschisis.
N. Zhou, Lihong Yang, Wen-guo Wei
semanticscholar +1 more source
A novel deletion-insertion variant of RS1 in X-linked retinoschisis
Ophthalmic GeneticsPurpose Structural variants such as large deletions or insertions are rarely observed in the RS1 gene. Here, we report a 20-year-old male patient with X-linked retinoschisis (XLRS) carrying a novel deletion-insertion variant of RS1.
Natsuki Higa +5 more
semanticscholar +1 more source
X-linked juvenile retinoschisis.
Bulletin de la Societe belge d'ophtalmologie, 1983X-linked juvenile retinoschisis is an infrequently occurring inherited disease affecting males. Female carriers are phenotypically normal. A stellate or wheel-spoke macular cystic appearance is considered by some to be pathognomonic for the disease in early stages. One half of the cases also have peripheral retinal and vitreal defects.
A, Leys +3 more
openaire +3 more sources