Advances in understanding the molecular structure of retinoschisin while questions remain of biological function

JB Heymann, C Vijayasarathy, RN Fariss… - Progress in Retinal and …, 2023 - Elsevier
Retinoschisin (RS1) is a secreted protein that is essential for maintaining integrity of the
retina. Numerous mutations in RS1 cause X-linked retinoschisis (XLRS), a progressive …

Of men and mice: human X-linked retinoschisis and fidelity in mouse modeling

C Vijayasarathy, SPBS Pasha, PA Sieving - Progress in Retinal and Eye …, 2022 - Elsevier
X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a
prominent macular component, that affects males and generally spares heterozygous …

Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X‐linked retinoschisis from North India

S Chatterjee, S Gupta, L Kirola… - American Journal of …, 2023 - Wiley Online Library
X‐linked retinoschisis (XLR) is a rare medical condition that involves in the splitting of
neurosensory layers and the impairment of vision in the retina. In majority of the XLR cases …

The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis

R Suvannaboon, A Tuekprakhon, AR Pawestri… - Scientific Reports, 2025 - nature.com
X-linked juvenile retinoschisis (XLRS) is an inherited retinal disease caused by mutations in
the RS1 gene, resulting in splitting of the retinal layers and visual disturbances. To provide …

Genotype–Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes

SJ Lee, H Jiang, HC Jeong, DH Jo, HB Song… - Ophthalmology …, 2024 - Elsevier
Purpose To assess the correlation between genotype and phenotype severity in X-linked
juvenile retinoschisis (XLRS) by examining clinical and genetic features of a cohort of …

[HTML][HTML] Genotype–Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator

X Wei, H Li, T Zhu, Z Sun, R Sui - Investigative Ophthalmology & …, 2024 - tvst.arvojournals.org
Purpose: This study investigated a three-dimensional indicator in spectral-domain optical
coherence tomography (SD-OCT) and established phenotype-genotype correlation in X …

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort

P Fortunato, A Pagliazzi, S Bargiacchi… - Ophthalmic …, 2023 - Taylor & Francis
Background X-linked juvenile retinoschisis (× LRS) is an X-linked vitreoretinal degenerative
disease that consists of variable phenotypes ranging from severe early-onset defects to …

Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort

S Chowdhury, P Chermakani, G Baliga… - Indian Journal of …, 2024 - journals.lww.com
Purpose: Retinoschisis is a distinctive condition characterized by intraretinal layer clefts,
primarily associated with X-linked recessive inheritance due to RS1 gene mutations. This …

Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population

GO Cetin, EN Cetin, T Akyol, HD Ilhan… - Ophthalmic …, 2022 - Taylor & Francis
Background X-linked retinoschisis is an inherited retinal disease caused by mutations in the
RS1 gene; however, a genotype-phenotype correlation regarding the mutation type or …

Surgical management of a large retinal cyst in X-linked retinoschisis with internal drainage: Report of an unusual case

P Sen, S Mishra - Indian Journal of Ophthalmology, 2020 - journals.lww.com
Although X-linked retinoschisis is a common retinal degeneration condition, the presence of
a large retinal cyst obscuring the visual axis in an infant is a rare presentation. Herein, we …