Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Détails
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_E5BC06429526
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Périodique
Genes
ISSN
2073-4425 (Electronic)
ISSN-L
2073-4425
Statut éditorial
Publié
Date de publication
21/11/2019
Peer-reviewed
Oui
Volume
10
Numéro
12
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is estimated to be 1/1,000,000 individuals. Here we report 6 families and searched for a genotype-phenotype correlation. All patients were referred due to reduced best-corrected visual acuity (BCVA), ranging from 0.1/10 to 3/10. They all showed vitelliform lesions located at the macula, sometimes extending into the midperiphery, along the vessels and the optic disc. Onset of the disease varied from the age of 3 to 25 years. Electrooculogram (EOG) revealed reduction in the EOG light rise in all patients. Molecular analysis revealed previously reported mutations p.(E35K);(E35K), p.(L31M);(L31M), p.(R141H);(A195V), p.(R202W);(R202W), and p.(Q220*);(Q220*) in five families. One family showed a novel mutation: p.(E167G);(E167G). All mutations were heterozygous in the parents. In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits. Autosomal recessive Bestrophinopathy (ARB), although rare, can be recognized by its phenotype and should be validated by molecular analysis. Genotype-phenotype correlations are difficult to establish and will require the analysis of additional cases.
Mots-clé
Adolescent, Adult, Bestrophins/genetics, Child, Electrooculography, Electroretinography, Eye/physiopathology, Eye Diseases, Hereditary/diagnosis, Eye Diseases, Hereditary/genetics, Eye Diseases, Hereditary/physiopathology, Female, Genetic Association Studies, Humans, Male, Mutation, Pedigree, Retinal Diseases/diagnosis, Retinal Diseases/genetics, Retinal Diseases/physiopathology, Young Adult, ARB, BEST1, bestrophinopathy
Pubmed
Web of science
Open Access
Oui
Création de la notice
05/12/2019 23:43
Dernière modification de la notice
23/01/2024 8:36