{"orpha":71213,"name":"Retinal cavernous hemangioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cavernous hemangioma of the retina","RCH"],"definition":"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71213/","orphanet_url":"https://www.orpha.net/en/disease/detail/71213","names":{"fr":{"name":"Hémangiome caverneux rétinien","synonyms":["Hémangiome caverneux de la rétine"],"definition":"Hamartome vasculaire rétinien rare, bénin, généralement unilatéral. Asymptomatique dans la plupart des cas, il peut toutefois provoquer chez certains patients une vision floue ou des corps flottants. Il se caractérise par la présence de vacuoles ressemblant à des grains de raisin."},"de":{"name":"Retinales kavernöses Hämangiom","synonyms":["RCH","Kavernom der Retina","Kavernöses Hämangiom der Netzhaut"],"definition":"Das Kavernöse Hämangiom der Netzhaut ist ein seltenes, gutartiges, meist einseitiges vaskuläres Hamartom. Es bleibt meist symptomlos, kann aber bei einigen Patienten verschwommenen Visus oder bewegliche Trübungen ('floaters') im Gesichtsfeld verursachen. Das Hämangiom ist gekennzeichnet durch weintrauben-ähnliche Vakuolen."},"es":{"name":"Hemangioma cavernoso retiniano","synonyms":["Hemangioma cavernoso de la retina"],"definition":"El hemangioma cavernoso retiniano es un hamartoma vascular retiniano benigno, poco frecuente, normalmente unilateral que, en la mayoría de casos, es asintomático pero que en algunos pacientes puede presentar visión borrosa o manchas flotantes y que se caracteriza por la presencia de vacuolas a modo de racimos de uva."},"it":{"name":"Emangioma cavernoso retinico","synonyms":["RCH","Emangioma cavernoso della retina"],"definition":"L'emangioma cavernoso retinico è un amartoma vascolare retinico benigno raro, di solito monolaterale che in molti casi è asintomatico, anche se alcuni pazienti possono presentare vista appannata o miodesopsie; è caratterizzato dalla presenza di vacuoli simili a grappoli d'uva."},"nl":{"name":"Caverneus hemangioom van retina","synonyms":["Retinaal caverneus hemangioom","Caverneus hemangioom van netvlies","RCH"],"definition":"Een zeldzaam, goedaardig, meestal unilateraal vasculair hamartoom van retina, dat in de meeste gevallen asymptomatisch is, maar zich bij sommige patiënten kan presenteren met troebel zicht of glasvochttroebeling, en dat gekenmerkt wordt door de aanwezigheid van op druiven lijkende vacuolen."},"pt":{"name":"Malformação capilar da retina","synonyms":["Hemangioma cavernoso da retina"]},"pl":{"name":"Naczyniak jamisty siatkówki","synonyms":["Malformacja naczyń włosowatych siatkówki"]},"cs":{"name":"Kavernózní hemangiom sítnice","synonyms":["Cavernous hemangioma of the retina","RCH"]},"uk":{"name":"Капілярна мальформація сітківки","synonyms":["Кавернозна гемангіома сітківки"],"definition":"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles."},"zh":{"name":"视网膜毛细血管畸形"},"tr":{"name":"Retinal kılcal damar malformasyonu"}},"xrefs":[{"source":"ICD-10","code":"D18.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD23","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1792856209"},{"source":"MONDO","code":"0019101","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0730304","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":673470,"name":"Benign vascular tumor","classifications":[147,198,202]},{"orpha":371436,"name":"Genetic neurovascular malformation","classifications":[156]},{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]},{"orpha":716450,"name":"Rare non-progressive retinal vasculopathy","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-04","source":"1106760[PMID]_24849703[PMID]_22738997[PMID]_19020641[PMID]","terms":[{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009711","label":"Retinal capillary hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012803","label":"Anisometropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008014","label":"Central fundal arteriolar microaneurysms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100014","label":"Epiretinal membrane","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011886","label":"Hyphema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030528","label":"Paracentral scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030786","label":"Photopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001147","label":"Retinal exudate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011532","label":"Subretinal exudate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007902","label":"Vitreous hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}