Retinoschisis 1, X-Linked, Juvenile (XLRS1)

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OMIM 57 312700 Disease Ontology 12 DOID:0060763 DOID:8465 ICD10 33 Q14.1 H33.10 ICD9CM 35 361.10 MeSH 44 D041441 NCIt 50 C85046 SNOMED-CT 68 44268007

Orphanet 59 ORPHA792 ICD10 via Orphanet 34 Q14.1 UMLS via Orphanet 74 C0271091 MedGen 42 C3714753 C0271091 KEGG 37 H01766 SNOMED-CT via HPO 69 103252009 23986001 274524001 128306009 193570009 247053007 38101003 42059000 405722004 95695004 238828009 31341008 more UMLS 73 C0152439 C3714753 C0271091 C1137478 more

NIH Rare Diseases : ⁵³ Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern. Low-vision aids can be helpful. Surgery may be needed for some complications.

MalaCards based summary : Retinoschisis 1, X-Linked, Juvenile, also known as juvenile retinoschisis, is related to enhanced s-cone syndrome and coats disease. An important gene associated with Retinoschisis 1, X-Linked, Juvenile is RS1 (Retinoschisin 1). The drugs Remifentanil and Meperidine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related phenotypes are abnormality of eye movement and cataract

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.

Genetics Home Reference : 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.

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...

GeneReviews: NBK1222

Clinical features from OMIM:

312700

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