{"orpha":75376,"name":"Autosomal dominant drusen","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADD","DHRD","Dominant drusen","Dominant radial drusen","Doyne honeycomb retinal dystrophy","Familial drusen","Malattia leventinese"],"definition":"A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75376/","orphanet_url":"https://www.orpha.net/en/disease/detail/75376","names":{"fr":{"name":"Drusen autosomique dominant","synonyms":["DHRD","Drusen dominants","Drusen familial dominant","Drusen familiaux","Drusen radiaires dominants","Dystrophie maculaire en rayon de miel de Doyne","Malattia leventinese"],"definition":"Dystrophie maculaire génétique rare caractérisée par le dépôt de matériel extracellulaire de couleur blanche ou jaune sous l'épithélium pigmentaire de la rétine dans le pôle postérieur de l'oeil, et affectant plusieurs membres d'une famille. Les signes cliniques sont variables, certains patients étant asymptomatiques et d'autres manifestant une perte progressive de la vision, des scotomes, éventuellement associés à une néovascularisation choroïdienne sous-fovéale, à des modifications pigmentaires étendues, à une atrophie localisée et/ou à une hémorragie sous-rétinienne."},"de":{"name":"Drusen, autosomal-dominante","synonyms":["Drusen, familiäre","DHRD","Doynsche Honigwabendystrophie","Drusen, dominante","Drusen, dominante radiäre","Malattia leventinese"],"definition":"Eine seltene genetisch bedingte Makuladystrophie, die durch das Vorhandensein kleiner gelb-weißer Ansammlungen von extrazellulärem Material unter dem retinalen Pigmentepithel im hinteren Augenpol gekennzeichnet ist und mehrere Mitglieder einer Familie betrifft. Das klinische Erscheinungsbild der Krankheit ist sehr unterschiedlich und reicht von asymptomatischen Patienten bis hin zu fortschreitendem Sehverlust und Skotomen, die möglicherweise mit subfovealer choroidaler Neovaskularisation, ausgedehnten Pigmentveränderungen, geografischer Atrophie und/oder subretinalen Blutungen einhergehen."},"es":{"name":"Drusas autosómicas dominantes","synonyms":["DHRD","Distrofia retiniana en panal de Doyne","Malattia leventinese","Drusas dominantes","Drusas radiales dominantes","Drusas familiares"],"definition":"Es una distrofia macular genética poco frecuente que se caracteriza por la presencia de pequeños depósitos de material extracelular de color blanquecino-amarillento debajo del epitelio pigmentario de la retina en el polo posterior ocular, y que afecta a varios miembros de una familia. La enfermedad tiene una presentación clínica variable que va desde pacientes asintomáticos hasta la pérdida progresiva de visión y escotomas, posiblemente asociada con neovascularización coroidea subfoveal, cambios pigmentarios extensos, atrofia geográfica y/o hemorragia subretiniana."},"it":{"name":"Drusen autosomici dominanti","synonyms":["DHRD","Distrofia retinica a favo di Doyne","Drusen dominanti","Drusen radiali dominanti","Malattia leventinese","ADD","Drusen familiari"],"definition":"Si tratta di una distrofia maculare genetica rara, caratterizzata da piccoli depositi di materiale extracellulare di colore giallo-bianco al di sotto dell'epitelio pigmentato della retina nel polo posteriore dell'occhio, presenti in più membri della stessa famiglia. Il quadro clinico è variabile; i pazienti possono essere asintomatici oppure mostrare la perdita progressiva della vista e scotomi, talvolta in associazione con la neovascolarizzazione coroidale al di sotto della fovea, estese alterazioni del pigmento, atrofia localizzata e/o emorragia sottoretinica."},"nl":{"name":"Autosomaal dominante drusen","synonyms":["ADD","DHRD","Dominante drusen","Dominante radiale drusen","Honingraat-retinadystrofie van Doyne","Familiale drusen","Malattia leventinese"],"definition":"Een zeldzame, genetische maculadystrofie, gekarakteriseerd door aanwezigheid van kleine, geel-witte accumulaties van extracellulair materiaal onder retinaal pigmentepitheel in achterste pool van oog, en aantasting van meerdere leden van een familie. De ziekte vertoont een variabele klinische presentatie gaande van asymptomatische patiënten tot progressief verlies van gezichtsvermogen en scotoom, mogelijk geassocieerd met subfoveale choroïdale neovascularisatie, extensieve pigmentveranderingen, geografische atrofie en/of subretinale hemorragie."},"pt":{"name":"Drusas dominante"},"pl":{"name":"Rodzinne druzy tarczy nerwu wzrokowego","synonyms":["DHRD","Dominujące druzy tarczy nerwu wzrokowego","Dominujące promieniowe druzy tarczy neru wzrokowego","Dystrofia plamki typu \"plastra miodu\" Doyne'a"]},"cs":{"name":"Familiární drúzy","synonyms":["DHRD","Dominantní drúzy","Dominantní radiální drúzy","Doyenova voštinovitá retinální dystrofie","Malattia leventinese"]},"uk":{"name":"Сімейні друзи","synonyms":["DHRD","Домінантний друзен","Домінуючий радіальний друзен","Сотова дистрофія сітківки Дойна","Малатія левентінезе (Malattia leventinese)"],"definition":"A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage."},"zh":{"name":"家族性玻璃疣","synonyms":["多英(氏)蜂窝状视网膜营养不良"]},"tr":{"name":"Ailesel drusen","synonyms":["DHRD","Baskın drusen","Malattia leventinese","Baskın radyal drusen","Doyne bal peteği retina distrofisi"]}},"xrefs":[{"source":"OMIM","code":"126600","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"126700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1768933446"},{"source":"MONDO","code":"0007471","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535602","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832174","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1912","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98667,"name":"OBSOLETE: Disease predisposing to age-related macular degeneration","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717336,"name":"Rare genetic isolated progressive predominantly macular disorder","classifications":[156]},{"orpha":716432,"name":"Rare isolated progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"CFH","name":"complement factor H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18252232[PMID]","hgnc":"4883","ensembl":"ENSG00000000971","omim":"134370","loci":["1q31.3"]},{"symbol":"CFI","name":"complement factor I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25986072[PMID]","hgnc":"5394","ensembl":"ENSG00000205403","omim":"217030","loci":["4q25"]},{"symbol":"EFEMP1","name":"EGF-like fibulin extracellular matrix protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19850834[PMID]","hgnc":"3218","ensembl":"ENSG00000115380","omim":"601548","loci":["2p16.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"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":"2021-09-21","source":"33689237[PMID]_32971684[PMID]_30578491[PMID]_28088509[PMID]","terms":[{"hpo":"HP:0030499","label":"Macular drusen","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030500","label":"Yellow/white lesions of the macula","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007754","label":"Macular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007937","label":"Reticular pigmentary degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030631","label":"Hyperautofluorescent macular lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030632","label":"Hypoautofluorescent macular lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011509","label":"Macular hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012508","label":"Metamorphopsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030629","label":"Perifoveal ring of hyperautofluorescence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012231","label":"Exudative retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007793","label":"Granular macular appearance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007401","label":"Macular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025574","label":"Macular hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030528","label":"Paracentral scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007950","label":"Peripapillary chorioretinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031526","label":"Subretinal fluid","frequency":"Occasional (29-5%)","criteria":null}]}}