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MCID: RTN209
MIFTS: 53
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Retinoschisis 1, X-Linked, Juvenile
Categories:
Genetic diseases, Eye diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Retinoschisis 1, X-Linked, Juvenile:
Characteristics:Orphanet epidemiological data:59
x-linked retinoschisis
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy; OMIM:57
Inheritance:
x-linked recessive
Miscellaneous:
may not be clinically manifest until middle life some affected females have been reported HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases
ICD10:
33
34
External Ids:
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Genetics Home Reference
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25
X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis.
MalaCards based summary : Retinoschisis 1, X-Linked, Juvenile, also known as retinoschisis, is related to coats disease and fundus dystrophy. An important gene associated with Retinoschisis 1, X-Linked, Juvenile is RS1 (Retinoschisin 1). The drugs Dorzolamide and Meperidine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are abnormality of eye movement and glaucoma Disease Ontology : 12 A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has material basis in the RS1 gene on chromosome Xp22. OMIM : 57 X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to reduced visual acuity in affected men. The condition accounts for almost all congenital retinoschisis, with occasional reports of autosomal dominant retinoschisis (see 180270) making up the remainder. The split in the retina occurs predominantly within the inner retinal layers and is very different from retinal detachment, which is a split between the neural retina and the retinal pigment epithelium. In general, carrier females remain asymptomatic (summary by Sikkink et al., 2007). (312700) UniProtKB/Swiss-Prot : 75 Retinoschisis juvenile X-linked 1: A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma. Wikipedia : 76 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina\'s neurosensory... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:312700Human phenotypes related to Retinoschisis 1, X-Linked, Juvenile:59 32 (show all 17)
GenomeRNAi Phenotypes related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Retinoschisis 1, X-Linked, Juvenile:46
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Drugs for Retinoschisis 1, X-Linked, Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 27)
Interventional clinical trials:(show all 15)
Cochrane evidence based reviews: retinoschisis |
MalaCards organs/tissues related to Retinoschisis 1, X-Linked, Juvenile:41
Retina,
Eye,
Brain
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Articles related to Retinoschisis 1, X-Linked, Juvenile:(show top 50) (show all 102)
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Genes related to Retinoschisis 1, X-Linked, Juvenile (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Retinoschisis 1, X-Linked, Juvenile:75 (show top 50) (show all 66)
ClinVar genetic disease variations for Retinoschisis 1, X-Linked, Juvenile:6
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GEO
for disease gene expression data for Retinoschisis 1, X-Linked, Juvenile.
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Cellular components related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:
Biological processes related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:
Molecular functions related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:
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