{"orpha":519400,"name":"Peripapillary staphyloma","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519400/","orphanet_url":"https://www.orpha.net/en/disease/detail/519400","names":{"fr":{"name":"Staphylome péripapillaire","definition":"Excavation papillaire congénitale rare caractérisée par une excavation profonde du fond de l'oeil avec une atrophie choriorétinienne entourant un disque optique d'apparence relativement normale. La vascularisation rétinienne est normale, on n'observe pas de colobome rétinochoroïdien ni d'anomalies gliales. Les patients manifestent un nystagmus horizontal et une acuité visuelle fortement réduite. L'association avec d'autres malformations congénitales ou maladies systémiques est rare."},"de":{"name":"Peripapilläres Staphylom","definition":"Eine seltene kongenitale Papillenexkavation, die durch eine tiefe Fundusexkavation mit chorioretinaler Atrophie gekennzeichnet ist, die einen relativ normal erscheinenden Sehnervenkopf umgibt. Die retinale Vaskularisation ist normal, retinochoroidale Kolobome und gliale Anomalien sind nicht vorhanden. Die Patienten haben meist eine einseitige, stark herabgesetzte Sehschärfe. Eine Assoziation mit anderen angeborenen Fehlbildungen oder systemischen Erkrankungen ist selten."},"es":{"name":"Estafiloma peripapilar","definition":"Es una excavación congénita del disco óptico poco frecuente caracterizada por una profunda excavación en el fondo de ojo con atrofia coriorretiniana que rodea un disco óptico de apariencia relativamente normal. La vascularización retiniana es normal, sin coloboma retinocoroideo ni anomalías gliales. Los pacientes presentan una agudeza visual notablemente reducida, en su mayoría unilateral. La asociación con otros defectos congénitos o enfermedades sistémicas es infrecuente."},"it":{"name":"Stafiloma peripapillare","definition":"Si tratta di un'escavazione congenita rara del disco ottico, caratterizzata da una profonda escavazione del fondo oculare con atrofia corioretinica localizzata attorno al disco ottico, che mantiene un aspetto relativamente normale. La vascolarizzazione retinica è normale. La malattia non si associa al coloboma corioretinico o ad anomalie gliali. L'acuità visiva è molto ridotta e di solito è monolaterale. Raramente si osservano altri difetti congeniti o malattie sistemiche."},"nl":{"name":"Peripapillair stafyloom","definition":"Een zeldzame congenitale papilexcavatie, gekarakteriseerd door diepe excavatie van fundus met chorioretinale atrofie rondom een relatief normaal lijkende papil. Retinale vasculatuur is normaal, en chorioretinaal coloboom en gliale anomalieën zijn afwezig. Patiënten vertonen overwegend unilaterale, uitgesproken gereduceerde gezichtsscherpte. Associatie met andere congenitale defecten of systemische ziekte komt doorgaans niet voor."},"pt":{"name":"Estafiloma peripapilar"},"pl":{"name":"Garbiak okołotarczowy"},"cs":{"name":"Peripapilární stafylom"},"uk":{"name":"Перипапілярна стафілома","definition":"A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon."},"zh":{"name":"视乳头周围的葡萄肿"},"tr":{"name":"Peripapiller stafilom"}},"xrefs":[{"source":"ICD-10","code":"Q14.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA13.7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1671190970"},{"source":"MONDO","code":"0034979","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5688490","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519333,"name":"Congenital optic disc excavation","classifications":[147,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}