| H01766 | |
| H number | H01766 |
| Name | Juvenile retinoschisis |
| Description | Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Affected persons typically display cystic streaks projecting from the parafoveal region of the retina, and a reduction in the b-wave amplitude of the full-field electroretinogram (ERG). Optical coherence tomography (OCT) further reveals a splitting of the outer plexiform and adjacent retinal layers. |
| Category | Congenital malformation |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B73.11 ICD-10: Q14.1 MeSH: D041441 OMIM: 312700 |
| Reference | PMID:17172462 AUTHORS Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D TITLE X-linked retinoschisis: an update. JOURNAL J Med Genet 44:225-32 (2007) DOI:10.1136/jmg.2006.047340 PMID:17525175 AUTHORS Dyka FM, Molday RS TITLE Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy. JOURNAL Invest Ophthalmol Vis Sci 48:2491-7 (2007) DOI:10.1167/iovs.06-1465 |