{"orpha":1574,"name":"Retinal degeneration-nanophthalmos-glaucoma syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Mackay-Shek-Carr syndrome"],"definition":"Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1574/","orphanet_url":"https://www.orpha.net/en/disease/detail/1574","names":{"fr":{"name":"Syndrome de dégénérescence rétinienne-microphtalmie-glaucome","synonyms":["Syndrome de Mackay-Shek-Carr"],"definition":"Le syndrome de dégénérescence rétinienne-microphtalmie-glaucome est caractérisé par une dégénérescence rétinienne pigmentaire progressive (avec nyctalopie, restriction du champ visuel), une dégénérescence maculaire kystique et un glaucome à angle fermé. Il a été décrit chez sept membres d'une famille. Les patients présentent également une hyperopie et une nanophtalmie. Le mode de transmission est autosomique récessif."},"de":{"name":"Netzhautdegeneration-Nanophthalmie-Glaukom-Syndrom","synonyms":["Mackay-Shek-Carr-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch progrediente Pigmentdegeneration der Retina (mit Nyktalopie und eingeengtem Gesichtsfeld), zystische Makuladegeneration und Glaukom mit verschlossenem Kammerwinkel. Die Patienten sind auch hyperop und haben einen Nanophthalus. Das Syndrom wurde in 1 Familie bei 7 Mitgliedern beschrieben, es wird autosomal-rezessiv vererbt."},"es":{"name":"Síndrome de degeneración retiniana-nanoftalmia-glaucoma","synonyms":["Síndrome de Mackay-Shek-Carr"],"definition":"Es un síndrome caracterizado por una degeneración progresiva de la retina pigmentaria (con nictalopía y restricción del campo visual), degeneración macular quística y glaucoma de ángulo cerrado. Se ha descrito en siete miembros de una familia. Los pacientes también presentaban hipermetropía y nanoftalmos. El modo de transmisión es autosómico recesivo."},"it":{"name":"Degenerazione retinica - microftalmia - glaucoma","synonyms":["Sindrome di Mackay-Shek-Carr"]},"nl":{"name":"Retinadegeneratie - nanoftalmie - glaucoom-syndroom","synonyms":["Syndroom van Mackay-Shek-Carr"],"definition":"Een syndroom, gekenmerkt door progressieve pigmentaire retinadegeneratie (met nyctalopie en beperking van gezichtsveld), cystische maculadegeneratie, en geslotenkamerhoekglaucoom. Retinadegeneratie - nanoftalmie - glaucoom-syndroom werd beschreven bij zeven leden van één familie. Patiënten hebben ook hyperopie en nanoftalmie. Overerving gebeurt autosomaal recessief."},"pt":{"name":"Síndrome de degenerescência retiniana-nanoftalmia-glaucoma","synonyms":["Síndrome Mackay-Shek-Carr"]},"pl":{"name":"Zwyrodnienie siatkówki - nanoftalmia - jaskra","synonyms":["Zespół Mackay'a, Sheka i Carra"]},"cs":{"name":"Syndrom zahrnující retinální degeneraci, nanoftalmus a glaukom","synonyms":["Mackayové-Shekův-Carrův syndrom","Mackay-Shek-Carrův syndrom"]},"uk":{"name":"Синдром дегенерації сітківки - наноофтальмос-глаукома","synonyms":["Синдром Маккея-Шека-Карра"],"definition":"Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive."},"zh":{"name":"视网膜变性-小眼-青光眼综合征","synonyms":["Mackay-Shek-Carr综合征"]},"tr":{"name":"Retinal dejenerasyon-nanoftalmos-glokom sendromu","synonyms":["Mackay-Shek-Carr sendromu"]}},"xrefs":[{"source":"OMIM","code":"267760","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9E1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1813140244"},{"source":"MONDO","code":"0009978","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538364","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931831","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"395","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"3827713[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3827713[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null}]}}