X-linked Retinoschisis, or X-Linked Juvenile Retinoschisis is a rare congenital disease of the retina caused by mutations in the RS1 gene, which encodes retinoschisin, a protein involved in intercellular adhesion and likely retinal cellular organization.

2021年5月7日 · The use of handheld SD OCT may reveal more details about the early human natural course of XLRS in the future. In the current cohort, we found a subset of 24 patients who received a diagnosis at 40 years of age or older and had relatively mild, late-onset visual symptoms and an atypical phenotype led to a challenging and delayed diagnosis of XLRS.

2003年10月24日 · Spectral domain optical coherence tomography (SD-OCT), currently the major diagnostic technique for XLRS, reveals characteristic intraretinal foveal schisis in younger men, while cystic spaces become less evident by middle age as the flattening of cysts (with the appearance of partial macular atrophy) occurs with age [Molday et al 2012].

X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram ...

X-linked retinoschisis (XLRS) is an inherited retinal disease (IRD) caused by pathogenic mutations in the retinoschisin gene, RS1. Affected individuals develop retinal layer separation, leading to loss of visual acuity (VA). Several XLRS gene therapy trials have been attempted but none have met their primary endpoints.

2022年2月1日 · The use of handheld SD OCT may reveal more details about the early human natural course of XLRS in the future. In the current cohort, we found a subset of 24 patients who received a diagnosis at 40 years of age or older and had relatively mild, late-onset visual symptoms and an atypical phenotype led to a challenging and delayed diagnosis of XLRS.

Purpose: Retinal vascular and structural changes, particularly outside of the central macula, are not well characterized in X-linked retinoschisis (XLRS). We aim to describe wide-field swept-source OCT (SS-OCT) and swept-source OCT angiography (SS-OCTA) findings in XLRS.

2024年11月27日 · 扫描激光眼底镜（slo）和光学相干断层扫描（oct）检测发现，xlrs患者视网膜出现典型的黄斑分裂，而对照-1则呈现正常眼底特征和oct形态。 此外，来自患者和对照的hiPSC细胞系均表现出典型的干细胞特征和多能干细胞标记物的表达，并具备多谱系分化潜力。

2014年5月8日 · Purpose: To investigate the tomographic characteristics of the outer retina and choroid and their relationship with visual acuity in X-linked juvenile retinoschisis (XLRS) patients using spectral-domain optical coherence tomography (SD-OCT).

2017年9月14日 · We present the evolution of X-linked juvenile retinoschisis (XLRS) in a male patient using optical coherence tomography (OCT) with a long-term follow-up time of 15 years. A 10-year-old male patient presented at the Medical Retina Department of our hospital complaining for blurred vision in both eyes.