{"orpha":178333,"name":"Åland Islands eye disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AIED","Forsius-Eriksson syndrome","Forsius-Eriksson type ocular albinism"],"definition":"An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178333/","orphanet_url":"https://www.orpha.net/en/disease/detail/178333","names":{"fr":{"name":"Maladie ophtalmique des îles Åland","synonyms":["AIED","Albinisme oculaire lié à l'X type Forsius-Eriksson","Syndrome de Forsius-Eriksson"],"definition":"La maladie ophtalmique de l'île d'Åland est une maladie rétinienne récessive liée à l'X caractérisée par une hypopigmentation du fond d'oeil, une diminution de l'acuité visuelle, un nystagmus, un astigmatisme, une myopie axiale progressive, un défaut d'adaptation à l'obscurité et une protanopie."},"de":{"name":"Åland Island-Augenkrankheit","synonyms":["Albinismus, okulärer, Typ Forsius-Eriksson","Forsius-Eriksson-Syndrom"],"definition":"Die Aland Island-Augenkrankheit (AIED) ist eine X-chromosomal-rezessiv vererbte Krankheit der Netzhaut und gekennzeichnet durch verminderte Pigmentierung des Fundus, verminderte Sehschärfe, Nystagmus, Astigmatismus, progressive axiale Myopie, defekte Dunkeladaptation und Protanopie."},"es":{"name":"Enfermedad ocular de las islas Åland","synonyms":["AIED","Albinismo ocular tipo Forsius-Eriksson","Síndrome de Forsius-Eriksson"],"definition":"Es una enfermedad retiniana ligada al cromosoma X recesiva caracterizada por hipopigmentación de fondo de ojo, disminución de la agudeza visual, nistagmo, astigmatismo, miopía axial progresiva, adaptación a la oscuridad defectuosa y pronatopia."},"it":{"name":"Malattia oculare dell'isola di Åland","synonyms":["AIED","Albinismo oculare, tipo Forsius-Eriksson","Sindrome di Forsius-Eriksson"],"definition":"La malattia oculare delle isole di Åland (AIED) è una retinopatia recessiva legata all'X, caratterizzata dall'ipopigmentazione del fondo, diminuzione dell'acuità visiva, nistagmo, astigmatismo, miopia assiale progressiva, adattamento anomalo al buio e protanopia."},"nl":{"name":"Åland eiland-oogziekte","synonyms":["AIED","Oculair albinisme, Forsius-Eriksson-type","Syndroom van Forsius-Eriksson"],"definition":"Een X-gebonden, recessieve aandoening van retina, gekarakteriseerd door hypopigmentatie van fundus, verminderde gezichtsscherpte, nystagmus, astigmatisme, progressieve axiale myopie, verstoorde donkeradaptatie en protanopie."},"pt":{"name":"Doença ocular tipo ilha Aland","definition":"A doença ocular tipo ilha Aland (AIED) é uma doença da retina ligada ao X recessiva, caracterizada por hipopigmentação do fundo de olho, diminuição da acuidade visual, nistagmo, astigmatismo, miopia axial progressiva, defeito de adaptação ao escuro e protanopia."},"pl":{"name":"Choroba oczu Wysp Alandzkich","synonyms":["AIED","Albinizm oczny typu Forsiusa i Erikssona","Zespół Forsiusa i Erikssona"]},"cs":{"name":"Ålandská oční nemoc","synonyms":["AIED","Forsius-Eriksson syndrome","Forsius-Eriksson type ocular albinism","Forsius-Erikssonův syndrom","Forsius-Erikssonův typ okulárního albinismu"]},"uk":{"name":"Хвороба очей Аландських островів","synonyms":["AIED","Синдром Форсіуса-Еріксона","Очний альбінізм типу Форсіуса-Еріксона"],"definition":"An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia."},"zh":{"name":"奥兰群岛眼病","synonyms":["Forsius-Eriksson型眼白化病"],"definition":"奥兰岛眼病是一种视网膜疾病，其主要临床表现为眼底色素减退、视力下降、眼球震颤、散光、进行性轴性近视、暗适应障碍和红色盲，多以X连锁隐性方式遗传。"},"tr":{"name":"Åland Adaları göz hastalığı","synonyms":["AIED","Forsius-Eriksson sendromu","Forsius-Eriksson tipi oküler albinizm"]}},"xrefs":[{"source":"OMIM","code":"300600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2025088146"},{"source":"MONDO","code":"0010371","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562664","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268505","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10574","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717330,"name":"Rare genetic isolated non-progressive predominantly macular disorder","classifications":[156]},{"orpha":716367,"name":"Rare isolated non-progressive generalized retinal disorder","classifications":[156,189]},{"orpha":716419,"name":"Rare isolated non-progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"CACNA1F","name":"calcium voltage-gated channel subunit alpha1 F","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17525176[PMID]","hgnc":"1393","ensembl":"ENSG00000102001","omim":"300110","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"17525176[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-01","source":"17525176[PMID]","terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030513","label":"Difficulty adjusting from light to dark","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007894","label":"Hypopigmentation of the fundus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null}]}}