{"orpha":52427,"name":"Retinitis punctata albescens","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RPA"],"definition":"A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52427/","orphanet_url":"https://www.orpha.net/en/disease/detail/52427","names":{"fr":{"name":"Rétinite ponctuée albescente","synonyms":["RPA"],"definition":"Forme progressive de rétinopathie familiale pigmentaire caractérisée par des taches blanches disséminées à travers le fond de l'oeil (épargnant la macula dans les premiers stades). Les patients manifestent une cécité nocturne dans l'enfance et peuvent également être atteints d'une perte d'acuité visuelle. Une perte significative de la vision a été rapportée dans les cinquième et sixième décennies de la vie."},"de":{"name":"Retinitis punctata albescens","definition":"Eine fortschreitende Form der familiären fleckigen Retinopathie, die durch weiße Pünktchen im gesamten Augenhintergrund gekennzeichnet ist (wobei die Makula in den frühen Stadien verschont bleibt). Die Patienten leiden in der Kindheit an Nachtblindheit und können auch einen Verlust der Sehschärfe erleiden. Im 5. und 6. Lebensjahrzehnt kommt es zu einem signifikanten Verlust des Sehvermögens."},"es":{"name":"Retinitis punctata albescens","definition":"Es una forma progresiva de retinopatía moteada familiar caracterizada por puntos blancos en todo el fondo de ojo (sin afectación de la mácula en las primeras etapas). Los pacientes se presentan con ceguera nocturna en la infancia, pudiendo experimentar también una pérdida de agudeza visual. Se ha descrito una pérdida significativa de la visión en la quinta y sexta décadas de la vida."},"it":{"name":"Retinite puntata albescens","definition":"Si tratta di una forma progressiva di retinopatia maculata familiare, caratterizzata da chiazze bianche sparse sul fondo dell'occhio (che risparmiano la macula nelle prime fasi della malattia). I pazienti presentano cecità notturna durante l'infanzia e possono andare incontro ad una riduzione dell'acuità visiva. Nella quinta e sesta decade si manifesta una perdita significativa della vista."},"nl":{"name":"Retinitis punctata albescens","definition":"Een progressieve vorm van familiale gespikkelde retinopathie, gekarakteriseerd door witte punctata over de gehele fundus (maar waarbij in de vroege stadia macula bespaard blijft). Patiënten vertonen nachtblindheid in de kindertijd en kunnen ook verlies van gezichtsscherpte ervaren. Significant verlies van gezichtsvermogen wordt gerapporteerd in het 5de en 6de levensdecennium."},"pt":{"name":"Retinite pontuada albescens","synonyms":["Fundus albipunctatus"]},"pl":{"name":"Zapalenie siatkówki kropkowate bielejące","synonyms":["RPA"]},"cs":{"name":"Retinitis punctata albescens","synonyms":["RPA"]},"uk":{"name":"Ретиніт по типу білих цяток","synonyms":["RPA"],"definition":"A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life."},"zh":{"name":"白点状视网膜炎","synonyms":["RPA"]},"tr":{"name":"Retinitis punktata beyazlaması","synonyms":["RPA"]}},"xrefs":[{"source":"OMIM","code":"136880","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"567796529"},{"source":"MONDO","code":"0018877","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1405854","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]}],"children":[],"genes":[{"symbol":"RDH5","name":"retinol dehydrogenase 5","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"9940","ensembl":"ENSG00000135437","omim":"601617","loci":["12q13.2"]},{"symbol":"RHO","name":"rhodopsin","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"8554077[PMID]","hgnc":"10012","ensembl":"ENSG00000163914","omim":"180380","loci":["3q22.1"]},{"symbol":"PRPH2","name":"peripherin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8485575[PMID]","hgnc":"9942","ensembl":"ENSG00000112619","omim":"179605","loci":["6p21.1"]},{"symbol":"RLBP1","name":"retinaldehyde binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10102299[PMID]_15234312[PMID]_15953459[PMID]","hgnc":"10024","ensembl":"ENSG00000140522","omim":"180090","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.125,"area":"Worldwide","status":"Validated","source":"23929416[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.175,"area":"Europe","status":"Validated","source":"ORPHANET_European Medecines Agency 2016[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-24","source":"23929416[PMID]_28764803[PMID]_14718298[PMID]","terms":[{"hpo":"HP:0008323","label":"Abnormal light- and dark-adapted electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030825","label":"Absent foveal reflex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030506","label":"Yellow/white lesions of the retina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007843","label":"Attenuation of retinal blood vessels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007675","label":"Progressive night blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007987","label":"Progressive visual field defects","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031605","label":"Abnormality of fundus pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011505","label":"Cystoid macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001142","label":"Lenticonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007401","label":"Macular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}