X-linked retinoschisis with point mutations in the XLRS1 gene.
Open Access
- 1 January 2000
- journal article
- ophthalmic molecular-genetics
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 118 (1) , 93-96
- https://doi.org/10.1001/archopht.118.1.93
Abstract
X-LINKED retinoschisis (XLRS), first described by Haas1 in 1898, is a relatively rare vitreoretinal dystrophy that causes visual loss in young men. Worldwide prevalence of the disease is reportedly 1:15,000 to 1:30,000,2 and it is characterized by perifoveal radial retinoschisis in a cartwheel-like pattern, peripheral retinoschisis with inner-leaf breaks, and "golden glistening" of the peripheral retina.3 The exact pathogenesis of XLRS is unknown, although histopathologic and electrophysiologic studies have shown that splitting of the retina occurs superficial to the nerve fiber layer and inner limiting membrane. Furthermore, an inherited defect has been identified that affects the innermost portion of the cytoplasm of the Müller cell,4-7 a cell necessary for neuronal growth and connectivity,8,9 resulting in failure to establish proper neuronal interactions.10 Electroretinography (ERG) in patients with XLRS shows a reduced b wave in most cases,7,11 whereas fluorescein angiography occasionally shows avascular areas or retinal vascular leakage, even in ophthalmoscopically normal-appearing fundi.12Keywords
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