{"orpha":792,"name":"X-linked retinoschisis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked juvenile retinoschisis","XLRS"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-792/","orphanet_url":"https://www.orpha.net/en/disease/detail/792","names":{"fr":{"name":"Rétinoschisis lié à l'X","synonyms":["Rétinoschisis juvénile lié à l'X","XLRS"],"definition":"Maladie rare affectant plusieurs structures de l'oeil, caractérisée par une diminution de l'acuité visuelle chez les hommes en raison d'une dégénérescence maculaire juvénile. Des signes cliniques tels que l'hémorragie du vitré, le décollement de la rétine et le glaucome néovasculaire peuvent être observés à un stade avancé."},"de":{"name":"Retinoschisis, X-chromosomale","synonyms":["Retinoschisis, juvenile, X-chromosomale","XLRS"],"definition":"Eine seltene Erkrankung männlicher Patienten, die mehrere Strukturen des Auges betrifft und zu einer verminderten Sehschärfe aufgrund einer juvenilen Makuladegeneration führt. In fortgeschrittenen Stadien können klinische Merkmale wie Glaskörperblutungen, Netzhautablösungen und neovaskuläre Glaukome beobachtet werden."},"es":{"name":"Retinosquisis ligada al cromosoma X","synonyms":["Retinosquisis juvenil ligada al cromosoma X","XLRS"],"definition":"Es un trastorno poco frecuente que afecta a múltiples estructuras oculares caracterizado por una disminución de la agudeza visual en varones debido a una degeneración macular juvenil. En estadios avanzados se observa características clínicas como hemorragia vítrea, desprendimiento de retina y glaucoma neovascular."},"it":{"name":"Retinoschisi legata all'X","synonyms":["Retinoschisi giovanile legata all'X","XLRS"],"definition":"La retinoschisi legata all'X (XLRS) è una malattia rara che interessa diverse strutture dell'occhio; è caratterizzata dalla riduzione dell'acuità visiva nei maschi, da degenerazione giovanile della macula. Negli stadi più avanzati della malattia i pazienti presentano emorragia del vitreo, distacco della retina e glaucoma neovascolare."},"nl":{"name":"X-gebonden retinoschisis","synonyms":["X-gebonden juveniele retinoschisis","XLRS"],"definition":"Een zeldzame aandoening met betrokkenheid van multipele structuren van oog, gekarakteriseerd door verminderde visus bij mannen als gevolg van juveniele maculadegeneratie. Klinische kenmerken zoals glasvochtbloedingen, netvliesloslating, en neovasculair glaucoom kunnen waargenomen worden in gevorderde stadia."},"pt":{"name":"Retinosquisis ligada ao X","synonyms":["Retinosquisis juvenil"],"definition":"A retinosquisis ligada ao X (XLRS) é uma doença ocular genética que é caracterizada por acuidade visual reduzida em indivíduos do sexo masculino devido a degenerescência macular juvenil."},"pl":{"name":"Wrodzone rozwarstwienie siatkówki sprzężone z chromosomem X","synonyms":["Rozwarstwienie siatkówki sprzężone z choromosomem X","XLRS"]},"cs":{"name":"X‑vázaná retinoschíza","synonyms":["X-vázaná juvenilní retinoschíza","XLRS"]},"uk":{"name":"Х-зчеплений ретиношизис","synonyms":["Х-зчеплений ювенільний ретиношизис","XLRS"],"definition":"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."},"zh":{"name":"X连锁视网膜劈裂症","synonyms":["X连锁青年性视网膜劈裂症"]},"tr":{"name":"X'e bağlı retinoşiz","synonyms":["XLRS","X'e bağlı jüvenil retinoşiz"]}},"xrefs":[{"source":"OMIM","code":"312700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q14.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B73.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2074506458"},{"source":"MONDO","code":"0010725","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271091","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4690","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98631,"name":"Congenital malformation of the eye with glaucoma as a major feature","classifications":[147,189]},{"orpha":525677,"name":"Genetic congenital malformation of the eye with glaucoma as a major feature","classifications":[156]},{"orpha":717336,"name":"Rare genetic isolated progressive predominantly macular disorder","classifications":[156]},{"orpha":716367,"name":"Rare isolated non-progressive generalized retinal disorder","classifications":[156,189]},{"orpha":716432,"name":"Rare isolated progressive predominantly macular disorder","classifications":[189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"RS1","name":"retinoschisin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10457","ensembl":"ENSG00000102104","omim":"300839","loci":["Xp22.13"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Denmark","status":"Not yet validated","source":"17172462[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Netherlands","status":"Not yet validated","source":"17172462[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"France","status":"Validated","source":"1918822[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"Europe","status":"Validated","source":"17172462[PMID]_1918822[PMID]_ ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-29","source":"20301401[PMID]_34822951[PMID]","terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030502","label":"Retinoschisis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000493","label":"Abnormal foveal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007984","label":"Electronegative electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025158","label":"Hyperautofluorescent retinal lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007902","label":"Vitreous hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030825","label":"Absent foveal reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030824","label":"Mizuo phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}