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 …
prominent macular component, that affects males and generally spares heterozygous …
Rs1h−/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation
Y Zeng, H Qian, MM Campos, Y Li, C Vijayasarathy… - Gene therapy, 2022 - nature.com
Animal models of X-linked juvenile retinoschisis (XLRS) are valuable tools for
understanding basic biochemical function of retinoschisin (RS1) protein and to investigate …
understanding basic biochemical function of retinoschisin (RS1) protein and to investigate …
A retrospective longitudinal study of 52 Finnish patients with X‐linked retinoschisis
MA Järvinen, RC Baraas, A Majander… - Acta …, 2024 - Wiley Online Library
Purpose To describe clinical characteristics in Finnish patients with X‐linked retinoschisis
(XLRS) longitudinally with emphasis on retinal morphology and genotype–phenotype …
(XLRS) longitudinally with emphasis on retinal morphology and genotype–phenotype …
Retinal honeycomb appearance and its role in patients with X-linked retinoschisis
J Ma, JH Liu, SF Li, Y Ma, GD Deng, L Li, MZ Yuan… - BMC …, 2023 - Springer
Background To investigate the clinical characteristics of retinal honeycomb appearance in a
large cohort of patients with X-linked retinoschisis (XLRS) and to determine whether it is …
large cohort of patients with X-linked retinoschisis (XLRS) and to determine whether it is …
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
D Sudha, S Neriyanuri, R Sachidanandam… - Plos one, 2018 - journals.plos.org
X-linked retinoschisis (XLRS) is a retinal degenerative disorder caused by mutations in RS1
gene leading to splitting of retinal layers (schisis) which impairs visual signal processing …
gene leading to splitting of retinal layers (schisis) which impairs visual signal processing …
Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog
H Joyce, LM Burmeister, H Wright, L Fleming… - Plos one, 2021 - journals.plos.org
Purpose Three related male English Cocker Spaniels (ECS) were reported to be
congenitally blind. Examination of one of these revealed complete retinal detachment. A …
congenitally blind. Examination of one of these revealed complete retinal detachment. A …
X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation
LM Smith, LA Cernichiaro-Espinosa… - Ophthalmic …, 2020 - Taylor & Francis
ABSTRACT Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary
retinopathy that commonly presents with macular retinoschisis. In this study, we describe a …
retinopathy that commonly presents with macular retinoschisis. In this study, we describe a …
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 …
RS1 gene; however, a genotype-phenotype correlation regarding the mutation type or …
Congenital X-Linked Retinoschisis and Retinal Detachment
HB Özdemir, Ş Özdek - Pediatric Vitreoretinal Surgery, 2023 - Springer
Congenital X-linked retinoschisis is a common degenerative retinopathy characterized by
bilateral mild to severe visual loss in males with splitting of retinal layers. Onset of the …
bilateral mild to severe visual loss in males with splitting of retinal layers. Onset of the …
3 Electrophysiology
R Ravani, D Kumawat, P Ramesh… - Retina: Medical & …, 2021 - books.google.com
3 Electrophysiology Page 70 3 Electrophysiology CHAPTER Raghav Ravani, Devesh
Kumawat, Priyanka Ramesh, Divya Agarwal, Atul Kumar INTRODUCTION Visual …
Kumawat, Priyanka Ramesh, Divya Agarwal, Atul Kumar INTRODUCTION Visual …