{"orpha":67042,"name":"Late-onset retinal degeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant late-onset retinal degeneration","LORD"],"definition":"Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-67042/","orphanet_url":"https://www.orpha.net/en/disease/detail/67042","names":{"fr":{"name":"Dégénérescence rétinienne d'apparition tardive","synonyms":["Dégénérescence rétinienne d'apparition tardive autosomique dominante"],"definition":"Dystrophie rétinienne héréditaire caractérisée par un retard d'adaptation à l'obscurité, une nyctalopie et des dépôts de drusen apparaissant à l'âge adulte, suivie d'une dégénérescence des cônes et des bâtonnets apparaissant dans la sixième décennie de vie, entraînant une perte de vision centrale. Des signes, tels que des défauts de transillumination de l'iris péripupillaire et des insertions zonulaires anormalement longues sont également observées dans le segment antérieur de l'oeil. Une néovascularisation choroïdienne et un glaucome peuvent survenir aux stades avancés de la maladie."},"de":{"name":"Netzhautdystrophie, spät beginnende","synonyms":["LORD","Netzhautdystrophie, autosomal-dominante, spät beginnende"],"definition":"Die sich spät manifestierende Netzhautdegeneration ist eine vererbte Netzhautdystrophie, die sich durch verzögerte Dunkeladaptation, Nachblindheit und Drusenablagerungen im Erwachsenenalter manifestiert, gefolgt von einer Degeneration der Zapfen und Stäbchen, meist in der der sechsten Lebensdekade, was zu einem zentralen Sehverlust führt. Anteriore Segmentmerkmale wie peripupillare Transilluminationsdefekte der Iris und abnorm lange anteriore Zonularinsertionen werden ebenfalls beobachtet. Choroidale Neovaskularisationen und eine Glaukomentwicklung können in den späten Stadien der Krankheit auftreten."},"es":{"name":"Degeneración retiniana de inicio tardío","definition":"Es una distrofia hereditaria de la retina caracterizada por una adaptación retardada a la oscuridad y nictalopia, así como por la presencia de drusas en la edad adulta, seguida por una degeneración de conos y bastones que se presenta en la sexta década de vida y que conduce a una pérdida de la visión central. En el segmento anterior pueden observarse algunas características, tales como defectos de transiluminación peripupilar e inserciones zonulares anteriores anómalamente largas. En etapas avanzadas de la enfermedad puede darse neovascularización coroidea y glaucoma."},"it":{"name":"Degenerazione retinica a esordio tardivo","synonyms":["Degenerazione retinica a esordio tardivo, autosomica dominante","LORD"],"definition":"La degenerazione retinica ad esordio tardivo è una distrofia ereditaria della retina, caratterizzata da ritardo nell'adattamento al buio, nictalopia e depositi di drusen in età adulta, seguiti dalla degenerazione dei coni e dei bastoncelli ad esordio nella sesta decade di vita, che esita nella perdita della visione centrale. Sono stati osservati anche segni a livello del segmento anteriore dell'occhio, come i difetti della transilluminazione dell'iride peripupillare e le inserzioni zonulari anteriori abnormemente lunghe. Negli stadi avanzati della malattia, possono verificarsi fenomeni di neovascolarizzazione della coroide e il glaucoma."},"nl":{"name":"Retinadegeneratie met late aanvang","synonyms":["Autosomaal dominante retinadegeneratie met late aanvang","LORD"],"definition":"Retinadegeneratie met late aanvang is een erfelijke retinadystrofie die gekarakteriseerd wordt door vertraagde donkeradaptatie, nyctalopie (nachtblindheid) en drusen met aanvang in de volwassenheid, gevolgd door degeneratie van kegeltjes en staafjes die zich voordoet in het zesde levensdecennium en leidt tot verlies van centraal zicht. Ook symptomen aan het voorste oogsegment zoals peripapillaire transilluminatiedefecten van de iris en abnormaal lange anterieure zonula-inserties worden waargenomen. Tijdens de laatste fases van de ziekte kunnen choroïdale neovascularisatie en glaucoom voorkomen."},"pt":{"name":"Degenerescência retiniana de início tardio","synonyms":["Degenerescência retiniana de início tardio autossómica dominante","LORD"]},"pl":{"name":"Zwyrodnienie siatkówki o późnym początku","synonyms":["Autosomalne dominujące zwyrodnienie siatkówki o późnym początku","LORD"]},"cs":{"name":"Retinální degenerace s pozdním nástupem","synonyms":["LORD","Autozomálně dominantní retinální degenerace s pozdním nástupem"]},"uk":{"name":"Пізня дегенерація сітківки","synonyms":["Аутосомно-домінантна пізня дегенерація сітківки","LORD"],"definition":"Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease."},"zh":{"name":"晚发性视网膜变性","synonyms":["常染色体显性遗传性晚发性视网膜变性"]},"tr":{"name":"Geç başlangıçlı retina dejenerasyonu","synonyms":["KRAL","Otozomal dominant geç başlangıçlı retina dejenerasyonu"]}},"xrefs":[{"source":"OMIM","code":"605670","qualifier":"E","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":"865077043"},{"source":"MONDO","code":"0011579","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565309","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854065","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4357","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]},{"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":"C1QTNF5","name":"C1q and TNF related 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12944416[PMID]","hgnc":"14344","ensembl":"ENSG00000223953","omim":"608752","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"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":"2021-09-15","source":"30578496[PMID]_31385385[PMID]_33949280[PMID]","terms":[{"hpo":"HP:0030534","label":"Abnormal best corrected visual acuity test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011510","label":"Drusen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031530","label":"Multifocal subretinal deposits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007791","label":"Patchy atrophy of the retinal pigment epithelium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001141","label":"Severely reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004328","label":"Abnormal anterior eye segment morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012628","label":"Abnormal suspensory ligament of lens morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001099","label":"Fundus atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001089","label":"Iris atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012805","label":"Iris transillumination defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007401","label":"Macular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500087","label":"Peripapillary atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000642","label":"Red-green dyschromatopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000552","label":"Tritanomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100014","label":"Epiretinal membrane","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Very rare (<4-1%)","criteria":null}]}}