{"orpha":59181,"name":"Sorsby fundus dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SMD","Sorsby macular dystrophy","Sorsby pseudoinflammatory fundus dystrophy"],"definition":"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-59181/","orphanet_url":"https://www.orpha.net/en/disease/detail/59181","names":{"fr":{"name":"Dystrophie de Sorsby","synonyms":["Dystrophie maculaire de Sorsby","Dystrophie pseudo-inflammatoire de Sorsby"],"definition":"Dystrophie maculaire autosomique dominante progressive rare, qui se manifeste entre la troisième et la sixième décennie de vie. Elle se caractérise par une atrophie rétinienne et un décollement de la rétine, entraînant une perte de la vision centrale, puis de la vision périphérique, et, finalement, la cécité."},"de":{"name":"Sorsby-Fundusdystrophie","synonyms":["SFD","Sorsby-Fundusdystrophie, pseudoinflammatorische"],"definition":"Die Fundus-Dystrophie Typ Sorsby ist eine seltene progressive, autosomal-dominant vererbte Makuladystrophie. Sie wird im 3. bis 6. Lebensjahrzehnt mit Netzhautatrophie und Netzhautablösung manifest. Die Folge sind Verlust zuerst des zentralen und danach des peripheren Sehens und eventuell Erblindung."},"es":{"name":"Distrofia del fondo de ojo de Sorsby","synonyms":["Distrofia macular de Sorsby","Distrofia pseudoinflamatoria del fondo de ojo de Sorsby"],"definition":"La distrofia de Sorsby del fondo del ojo es una distrofia macular progresiva autosómica dominante poco frecuente, que se presenta entre la tercera y la sexta década de vida, y que se caracteriza por atrofia retiniana y desprendimiento de retina, dando lugar a pérdida de visión central, a continuación pérdida de visión periférica y, finalmente, ceguera."},"it":{"name":"Distrofia del fondo oculare di Sorsby","synonyms":["SMD","Distrofia maculare di Sorsby","Distrofia pseudoinfiammatoria del fondo oculare di Sorsby"]},"nl":{"name":"Fundusdystrofie van Sorsby","synonyms":["SMD","Maculadystrofie van Sorsby","Pseudo-inflammatoire fundusdystrofie van Sorsby"],"definition":"Een zeldzame progressieve autosomaal dominante maculadystrofie, met presentie tussen het derde en zesde levensdecennium, gekenmerkt door atrofie van retina en netvliesloslating, met als resultaat verlies van centraal zicht, vervolgens verlies van perifeer zicht, en tot slot blindheid."},"pt":{"name":"Distrofia fúndica de Sorsby"},"pl":{"name":"Dystrofia plamki żółtej Sorsby'ego","synonyms":["SMD","Sorsby macular dystrophy","Sorsby pseudoinflammatory fundus dystrophy"]},"cs":{"name":"Sorsbyho dystrofie fundu","synonyms":["SMD","Sorsby macular dystrophy","Sorsby pseudoinflammatory fundus dystrophy"]},"uk":{"name":"Псевдозапальна дистрофія очного дна Сорсбі","definition":"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness."},"zh":{"name":"Sorsby假性炎性眼底营养不良"},"tr":{"name":"Sorsby psödoinflamatuar fundus distrofisi"}},"xrefs":[{"source":"OMIM","code":"136900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"796458172"},{"source":"MONDO","code":"0007640","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7640","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564992","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850938","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"TIMP3","name":"TIMP metallopeptidase inhibitor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7894485[PMID]","hgnc":"11822","ensembl":"ENSG00000100234","omim":"188826","loci":["22q12.3"]}],"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":"2021-09-08","source":"30578493[PMID]_26077580[PMID]_31704701[PMID]_30298528[PMID]","terms":[{"hpo":"HP:0007754","label":"Macular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031528","label":"Subretinal deposits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030500","label":"Yellow/white lesions of the macula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000610","label":"Abnormal choroid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030602","label":"Abnormal fundus autofluorescence imaging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030491","label":"Choriocapillaris atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030625","label":"Hyporeflective spaces on macular OCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001129","label":"Large central visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001141","label":"Severely reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null}]}}