{"orpha":41751,"name":"Bietti crystalline dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BCD","Bietti crystalline corneoretinal dystrophy","Bietti crystalline retinopathy"],"definition":"A rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-41751/","orphanet_url":"https://www.orpha.net/en/disease/detail/41751","names":{"fr":{"name":"Maladie de Bietti","synonyms":["Dystrophie cornéo-rétinienne cristalline de Bietti","Dystrophie cristalline de Bietti","Rétinopathie cristalline de Bietti"],"definition":"Maladie rare de dégénérescence tapétorétinienne progressive autosomique récessive, survenant dans la troisième décennie de la vie, caractérisée par de petits dépôts cristallins scintillants dans la rétine postérieure et le limbe cornéen, en plus de la sclérose des vaisseaux choroïdiens, se manifestant par une héméralopie, une baisse de la vision, un scotome paracentral et, dans les derniers stades de la maladie, une cécité légale."},"de":{"name":"Bietti-Kristalldystrophie","synonyms":["BCD","Bietti`s kristalline Retinopathie"],"definition":"Die Bietti-Kristall Dystrophie (BCD) ist eine seltene progrediente, autosomal-rezessiv vererbte tapetoretinale Degeneration, die im 3. Lebensjahrzehnt auftritt. Sie ist gekennzeichnet durch kleine glänzende kristalline Ablagerungen in der hinteren Retina und im Kornea-Limbus, und durch Sklerose der Choroidea-Gefäße. Die Folge sind Nachtblindheit, verminderte Sehkraft, parazentrales Skotom und, im Endstadium, legale Blindheit."},"es":{"name":"Distrofia cristalina de Bietti","synonyms":["BCD","Distrofia corneo-retiniana cristalina de Bietti","Retinopatía cristalina de Bietti"],"definition":"La distrofia cristalina de Bietti (BCD) es una enfermedad degenerativa tapetorretiniana progresiva autosómica recesiva poco frecuente, que se presenta en la tercera década de vida, y que se caracteriza por pequeños depósitos cristalinos brillantes en la retina posterior y en el limbo corneal además de esclerosis de los vasos coroideos. Se manifiesta como ceguera nocturna, disminución de la visión, escotoma paracentral y, en las últimas etapas de la enfermedad, ceguera legal."},"it":{"name":"Distrofia del cristallino di Bietti","synonyms":["BCD","Distrofia corneo-retinica del cristallino di Bietti","Retinopatia del cristallino di Bietti"],"definition":"La distrofia cristallina di Bietti (BCD) è una malattia degenerativa rara progressiva tapetoretinica, ad eredità autosomica recessiva, che esordisce durante la terza decade di vita, ed è caratterizzata da piccoli depositi cristallini brillanti nella parte posteriore della retina e nel limbo corneale, in aggiunta alla sclerosi dei vasi della coroide; si manifesta con cecità notturna, diminuzione della vista, scotoma paracentrale e, negli stadi terminali, cecità legale."},"nl":{"name":"Kristallijne dystrofie van Bietti","synonyms":["BCD","Kristallijne corneoretinale dystrofie van Bietti","Kristallijne retinopathie van Bietti"],"definition":"Een zeldzame progressieve autosomaal recessieve aandoening met tapetoretinale degeneratie, met aanvang in het derde levensdecennium, gekenmerkt door kleine glinsterende kristallijne deposities in posterieure retina en limbus corneae (rand van hoornvlies), bovenop sclerose van choroïdale bloedvaten, en zich manifesterend met nachtblindheid, verminderd gezichtsvermogen, paracentraal scotoom, en in de finale stadia van de ziekte legale blindheid."},"pt":{"name":"Distrofia cristalina de Bietti","synonyms":["BCD"]},"pl":{"name":"Dystrofia krystaliczna Biettiego","synonyms":["BCD","Retinopatia krystaliczna Biettiego"]},"cs":{"name":"Biettiho krystalová dystrofie","synonyms":["BCD","Biettiho krystalová korneoretinální dystrofie","Biettiho krystalová retinopatie"]},"uk":{"name":"Кристалічна дистрофія Бєтті","synonyms":["BCD","Кристалічна дистрофія рогівки та сітківки ока Бєтті","Кристалічна ретинопатія Бєтті"],"definition":"A rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness."},"zh":{"name":"结晶样视网膜色素变性","synonyms":["Bietti晶体角膜视网膜营养不良"]},"tr":{"name":"Bietti kristalin distrofi","synonyms":["BCD","Bietti kristalin retinopati","Bietti kristalin korneoretinal distrofi"]}},"xrefs":[{"source":"OMIM","code":"210370","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":"1922709888"},{"source":"MONDO","code":"0008865","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535440","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859486","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10050","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717317,"name":"Rare genetic isolated progressive predominantly chorioretinal disorder","classifications":[156]},{"orpha":717336,"name":"Rare genetic isolated progressive predominantly macular disorder","classifications":[156]},{"orpha":716348,"name":"Rare isolated progressive predominantly chorioretinal disorder","classifications":[189]},{"orpha":716432,"name":"Rare isolated progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"CYP4V2","name":"cytochrome P450 family 4 subfamily V member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15042513[PMID]_21565171[PMID]_22497028[PMID]","hgnc":"23198","ensembl":"ENSG00000145476","omim":"608614","loci":["4q35.1-q35.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","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":"2021-09-03","source":"31512983[PMID]_34068831[PMID]_22497028[PMID]","terms":[{"hpo":"HP:0030491","label":"Choriocapillaris atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200065","label":"Chorioretinal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007760","label":"Crystalline corneal dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000654","label":"Decreased light- and dark-adapted electroretinogram amplitude","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031528","label":"Subretinal deposits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011505","label":"Cystoid macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001129","label":"Large central visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030528","label":"Paracentral scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030329","label":"Retinal thinning","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001141","label":"Severely reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null}]}}