X-linked retinoschisis: an update

X-linked retinoschisis: an update.

X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secretory retinal protein, retinoschisin. Retinoschisin octamerisation is implicated in...

X-linked Hereditary Retinoschisis.

AN X-linked degenerative retino-choroidal disease, hereditary retinoschisis, has been identified in the last 10 years. In milder cases the disease takes the form of radial macular degeneration, but in severe cases a grey sheet-like veil is attached to the detachment in the retinal vasculature, especially in the lower temporal quadrant. In differential diagnosis, according to Ricci (1960), a dom...

X linked retinoschisis.

X-linked Juvenile Retinoschisis

Keywords Diagnostic criteria/definition Synonyms Historical overview Excluded diseases Differential diagnosis Prevalence Clinical description Evolution Treatment Etiology Diagnostic methods Genetics Genetic counseling Prenatal diagnosis References Abstract X-linked retinoschisis is a congenital ocular disease secondary to an abnormal cleavage of the innermost layer of the retina. The frequency ...

Novel RS1 Mutation in an Irish X-Linked Retinoschisis Cohort

Program Number: 6585 Poster Board Number: D0356 Presentation Time: 11:00 AM–12:45 PM Novel RS1 Mutation in an Irish X-Linked Retinoschisis Cohort Kirk Stephenson1, Matthew Carrigan2, Paul Kenna3, 2, G Jane Farrar2, David Keegan1. 1Ophthalmology, Mater Misericordiae University Hospital, Dublin, Ireland; 2Trinity College Dublin, Dublin, Ireland; 3Ophthalmology, Royal Victoria Eye & Ear Hospital, ...