{"orpha":352718,"name":"Progressive retinal dystrophy due to retinol transport defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Retinol dystrophy-iris coloboma-comedogenic acne syndrome"],"definition":"Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352718/","orphanet_url":"https://www.orpha.net/en/disease/detail/352718","names":{"fr":{"name":"Dystrophie rétinienne progressive par déficit de transport du rétinol","synonyms":["Syndrome de dystrophie rétinienne-colobome de l'iris-acné comédogène"],"definition":"Anomalie rare de transport et d'absorption des métabolites, d'origine génétique, caractérisée par une dystrophie progressive des cônes et des bâtonnets se manifestant généralement par des troubles de la vision nocturne pendant l'enfance, une perte progressive de l'acuité visuelle et un déficit sévère en rétinol, en l'absence de kératomalacie. Des associations avec des colobomes oculaires, une acné sévère et une hypercholestérolémie ont été rapportées."},"de":{"name":"Progressive Retinadystrophie durch Retinol-Transportdefekt","synonyms":["Retinadystrophie-Iriskolobom-comedogene Akne-Syndrom"]},"es":{"name":"Distrofia retiniana progresiva por defectos del transporte de retinol","synonyms":["Distrofia retiniana-coloboma del iris-síndrome de acné comedogénico"],"definition":"La distrofia retiniana progresiva por defectos del transporte de retinol es un trastorno de absorción y transporte de metabolitos, genético y poco frecuente, caracterizado por distrofia progresiva de conos y bastones. Por lo general, presenta visión nocturna deficiente en la infancia, pérdida progresiva de agudeza visual y deficiencia grave de retinol sin queratomalacia. Se ha descrito la asociación con colobomas oculares, acné severo e hipercolesterolemia."},"it":{"name":"Distrofia retinica progressiva da difetto del trasporto del retinolo","synonyms":["Sindrome distrofia retinica-coloboma dell'iride-acne comedogena"],"definition":"La distrofia retinica progressiva da difetto del trasporto del retinolo è una malattia genetica rara dell'assorbimento e del trasporto dei metaboliti, caratterizzata da distrofia progressiva dei coni e dei bastoncelli, che di solito esordisce nell'infanzia con la compromissione della visione notturna, la perdita progressiva dell'acuità visiva e il grave deficit del retinolo senza cheratomalacia. Può associarsi ai colobomi oculari, all'acne grave e all'ipercolesterolemia."},"nl":{"name":"Progressieve retinadystrofie door defect van retinoltransport","synonyms":["Retinadystrofie - iriscoloboom - comedogene acne-syndroom"],"definition":"Progressieve retinale dystrofie door een defect van het retinoltransport is een zeldzame, genetische stoornis van de absorptie en het transport van metabolieten, en wordt gekarakteriseerd door progressieve kegel-staafdystrofie, die zich meestal presenteert met verstoord nachtzicht in de kindertijd, progressief verlies van gezichtsscherpte en ernstige retinoldeficiëntie zonder keratomalacie. Er werd ook reeds associatie gerapporteerd met oculaire colobomen, ernstige acne en hypercholesterolemie."},"pt":{"name":"Distrofia retiniana progressiva por defeito no transporte de retinol"},"pl":{"name":"Postępująca dystrofia siatkówki spowodowana defektem transportu retinolu","synonyms":["Zespół dystrofia retinolowa-rozszczep tęczówki-trądzik komedogenny"],"definition":"*Postępująca dystrofia siatkówki spowodowana defektem transportu retinoluinf brsup jest rzadkim, genetycznie uwarunkowanym zaburzeniem wchłaniania i transportu metabolitów, który charakteryzuje się postępującą dystrofią pręcikowo-czopkową, zwykle objawiającą się w dzieciństwie upośledzeniem widzenia w nocy, postępującą utratą ostrości wzroku i ciężkim niedoborem retinolu bez keratomalacji (degeneracji rozpływnej rogówki). Zgłaszano także rozszczep struktur oka (coloboma), ciężki trądzik i hipercholesterolemię.inf brsup"},"cs":{"name":"Progresivní dystrofie sítnice způsobená defektem transportu retinolu","synonyms":["Syndrom zahrnující retinolovou dystrofii, kolobom duhovky a komedonové akné"]},"uk":{"name":"Прогресуюча дистрофія сітківки, зумовлена дефектом транспорту ретинолу","synonyms":["Синдром ретинолової дистрофії - колобомирайдужки - комедогенного акне"],"definition":"Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported."},"zh":{"name":"视黄醇转运缺陷所致进行性视网膜营养不良","synonyms":["视黄醇营养不良虹膜疣粉刺综合征"],"definition":"视黄醇运输缺陷所致的进行性视网膜营养不良是一种罕见的遗传性、代谢物吸收和运输障碍，其特征是进行性视杆-视锥细胞营养不良，通常表现为儿童期夜视功能减退、视力进行性丧失和无角膜软化的严重视黄醇缺乏。本病与眼部缺损、严重痤疮和高胆固醇血症的关联性已有报道。"},"tr":{"name":"Retinol taşıma defektine bağlı ilerleyici retina distrofisi","synonyms":["Retinol distrofi-iris kolobomu-komedojenik akne sendromu"]}},"xrefs":[{"source":"OMIM","code":"615147","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014060","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751000","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":309833,"name":"Disorder of other vitamins and cofactors metabolism and transport","classifications":[150,156]},{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"RBP4","name":"retinol binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23189188[PMID]","hgnc":"9922","ensembl":"ENSG00000138207","omim":"180250","loci":["10q23.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"9888420[PMID]_23189188[PMID]_27892788[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23189188[PMID]_27892788[PMID]"}],"phenotypes":null}