Phenotypic Expression of Juvenile X-linked Retinoschisis in Swedish Families With Different Mutations in the XLRS1 Gene
Open Access
- 1 August 2000
- journal article
- ophthalmic molecular-genetics
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 118 (8) , 1098-1104
- https://doi.org/10.1001/archopht.118.8.1098
Abstract
JUVENILE X-LINKED retinoschisis, also called congenital retinoschisis(congenital vascular veils or vitreous veils), is an X-linked inherited retinal disorder characterized by a splitting of the retina (schisis means splitting), leading to visual failure early in life. In juvenile retinoschisis, the splitting occurs in the nerve fiber layer. This differs from the schisis seen in acquired (senile) retinoschisis, in which the splitting is located in the middle layers of the sensory retina.1-3Keywords
This publication has 1 reference indexed in Scilit:
- Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)Human Molecular Genetics, 1998