KEGG   DISEASE: Retinoschisis
Entry
H02475                      Disease                                
Name
Retinoschisis
  Subgroup
X-linked juvenile retinoschisis (XLRS)
Description
Retinoschisis (RS) is a retinal disorder with macular degeneration. In most cases, juvenile retinoschisis is transmitted as an X-linked recessive trait. The RS1 gene responsible for X-linked juvenile retinoschisis (XLRS) was discovered by positional cloning.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA13  Structural developmental anomalies of the posterior segment of eye
     H02475  Retinoschisis
Gene
RS1 [HSA:6247] [KO:K25729]
Other DBs
ICD-11: LA13.3
MeSH: D041441
OMIM: 312700
Reference
PMID:15531314
  Authors
Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K
  Title
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.
  Journal
Am J Ophthalmol 138:788-98 (2004)
DOI:10.1016/j.ajo.2004.06.031
Reference
PMID:19093009
  Authors
Lesch B, Szabo V, Kanya M, Somfai GM, Vamos R, Varsanyi B, Pamer Z, Knezy K, Salacz G, Janaky M, Ferencz M, Hargitai J, Papp A, Farkas A
  Title
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
  Journal
Mol Vis 14:2321-32 (2008)
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