Retinoschisis 1, X-Linked, Juvenile (RS1)

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MedlinePlus Genetics: ⁴² 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.X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a man's fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness.

MalaCards based summary: Retinoschisis 1, X-Linked, Juvenile, also known as retinoschisis, is related to juvenile retinoschisis and nicolaides-baraitser syndrome. An important gene associated with Retinoschisis 1, X-Linked, Juvenile is RS1 (Retinoschisin 1), and among its related pathways/superpathways are Visual phototransduction and Visual Cycle in Retinal Rods. The drugs Bupivacaine and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and pineal, and related phenotypes are abnormality of eye movement and cataract

UniProtKB/Swiss-Prot: ⁷³ 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.

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) (Updated 08-Dec-2022)

Orphanet: ⁵⁸ A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.

Disease Ontology: ¹¹ 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.

Wikipedia: ⁷⁵ Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory... more...

Clinical features from OMIM®:

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