{"orpha":75326,"name":"Familial isolated retinal arteriolar tortuosity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial retinal arteriolar tortuosity","Retinal arteriolar tortuosity","Retinal hemorrhage with vascular tortuosity","Tortuosity of retinal arteries"],"definition":"A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75326/","orphanet_url":"https://www.orpha.net/en/disease/detail/75326","names":{"fr":{"name":"Tortuosité artériolaire rétinienne familiale isolée","synonyms":["Syndrome d'hémorragie de la rétine-tortuosité vasculaire","Tortuosité artériolaire rétinienne familiale","Tortuosité des artères de la rétine","Tortuosité des artérioles rétiniennes"],"definition":"Maladie génétique rare des petites artères cérébrales caractérisée par une tortuosité marquée et isolée des artérioles rétiniennes de deuxième et troisième ordre avec système veineux et artérioles de premier ordre normaux, généralement localisée dans la région maculaire et péripapillaire, se développant dans l'enfance ou au début de l'âge adulte. La maladie peut être asymptomatique, bien que la plupart des patients présentent une perte transitoire de la vision de degré variable due à une hémorragie rétinienne après exercice physique ou traumatisme mineur."},"de":{"name":"Familiäre isolierte Tortuosität der Netzhautarterien","synonyms":["Netzhautblutungen mit vaskulärer Tortuositas","Vermehrte Schlängelung der Netzhautarterien","Familiäre retinale arterioläre Tortuositas"],"definition":"Eine seltene genetisch bedingte zerebrale Kleingefäßerkrankung, die durch eine isolierte ausgeprägte Tortuosität der Netzhautarterien zweiter und dritter Ordnung bei normalem Arterien- und Venensystem erster Ordnung gekennzeichnet ist, typischerweise im Makula- und Peripapillarbereich auftritt und sich in der Kindheit oder im frühen Erwachsenenalter entwickelt. Die Krankheit kann asymptomatisch sein, obwohl die meisten Patienten einen unterschiedlich starken vorübergehenden Sehverlust aufgrund von Netzhautblutungen nach körperlicher Anstrengung oder einem leichten Trauma aufweisen."},"es":{"name":"Tortuosidad arterial retiniana familiar aislada","synonyms":["Hemorragia retiniana con tortuosidad vascular","Tortuosidad arteriolar retiniana","Tortuosidad arteriolar retiniana familiar","Tortuosidad de las arterias retinianas"],"definition":"Es una enfermedad genética poco frecuente de los vasos sanguíneos cerebrales caracterizada por una tortuosidad marcada y aislada de las arterias retinianas de segundo y tercer orden con arterias y sistema venoso de primer orden normales, típicamente ubicada en el área macular y peripapilar y que se desarrolla durante la niñez o la edad adulta temprana. La enfermedad puede ser asintomática, aunque la mayoría de los pacientes presenta grados variables de pérdida transitoria de la visión debido a una hemorragia retiniana posterior a un esfuerzo físico o a un traumatismo menor."},"it":{"name":"Tortuosità familiare isolata delle arteriole retiniche","synonyms":["Emorragia retinica con tortuosità vascolare","Tortuosità delle arterie della retina","Tortuosità delle arteriole retiniche","Tortuosità familiare delle arteriole retiniche"],"definition":"Si tratta di una malattia genetica rara dei piccoli vasi cerebrali, caratterizzata da una marcata tortuosità isolata delle arterie retiniche di secondo e terzo ordine, mentre le arterie di primo ordine e il sistema venoso sono normali. Di solito si localizza nell'area maculare e peripapillare, e si manifesta durante l'infanzia o la prima età adulta. I pazienti possono essere asintomatici, ma la maggior parte di essi presenta una perdita transitoria della vista di gravità variabile, secondaria all'emorragia retinica causata dallo sforzo fisico o da traumi lievi."},"nl":{"name":"Familiale geïsoleerde retinale arteriële tortuositeit","synonyms":["Familiale retinale arteriële tortuositeit","Retinale arteriolaire tortuositeit","Retinale hemorragie met vasculaire tortuositeit","Tortuositeit van retinale arteriën"],"definition":"Een zeldzame genetische aandoening van kleine cerebrale bloedvaten, gekenmerkt door opmerkelijke geïsoleerde tortuositeit van retinale arteriën van de tweede en derde orde met normale arteriën van de eerste orde en normaal veneus systeem, doorgaans gesitueerd in maculair en peripapillaire gebieden en zich ontwikkelend in de kindertijd of vroege volwassenheid. De ziekte kan asymptomatisch zijn, maar de meeste patiënten vertonen variabele gradaties van tijdelijk verlies van gezichtsvermogen door retinale bloeding na fysieke inspanning of klein trauma."},"pt":{"name":"Tortuosidade arteriolar da retina isolada familiar","synonyms":["Hemorragia retiniana com tortuosidade vascular","Tortuosidade arteriolar da retina","Tortuosidade arteriolar da retina familiar","Tortuosidade das artérias da retina"],"definition":"Doença genética cerebral rara de pequenos vasos caracterizada por tortuosidade isolada evidente de artérias retinianas de segunda e terceira ordem com artérias de primeira ordem e sistema venoso normais, tipicamente localizada na área macular e peripapilar e desenvolvendo-se durante a infância ou no início da idade adulta. A doença pode ser assintomática, embora a maioria dos doentes apresente graus variáveis &#8203;&#8203;de perda transitória da visão devido a hemorragia retiniana após esforço físico ou trauma menor."},"pl":{"name":"Krętość tętnic siatkówki","synonyms":["Krętość tętnic siatkówki","Krętość tętnic siatkówki","Krwotok w siatkówce z krętością naczyń","Rodzinna izolowana krętość tętnic siatkówki"]},"cs":{"name":"Retinální arteriální tortuozita","synonyms":["Retinální arteriolární tortuozita","Retinální hemoragie a vaskulární tortuozita","Tortuozita retinálních arterií"]},"uk":{"name":"Сімейна ізольована артеріолярна звивистість сітківки","synonyms":["Сімейна артеріолярна звивистість сітківки","Артеріолярна звивистість сітківки","Крововилив у сітківку з звивистістю судин","Звивистість артерій сітківки"],"definition":"A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma."},"zh":{"name":"视网膜动脉迂曲","synonyms":["视网膜出血伴血管迂曲"]},"tr":{"name":"Retinal arteriyel kıvrımlılık","synonyms":["Retina arteriolar kıvrımlılık","Retinal arterlerin kıvrımı","Vasküler kıvrımlı retina kanaması"]}},"xrefs":[{"source":"OMIM","code":"180000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008373","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779553","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":477765,"name":"COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COL4A1","name":"collagen type IV alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25228067[PMID]","hgnc":"2202","ensembl":"ENSG00000187498","omim":"120130","loci":["13q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"12745002[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}