Next Article in Journal
Genomic Analysis of Spontaneous Abortion in Holstein Heifers and Primiparous Cows
Next Article in Special Issue
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy
Previous Article in Journal
Transcriptome Analysis and Identification of Insecticide Tolerance-Related Genes after Exposure to Insecticide in Sitobion avenae
Previous Article in Special Issue
The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

IRO-Institute for Research in Ophthalmology, 1950 Sion, Switzerland
Oculogenetic Laboratory LR14SP01, Hedi Rais Institute of Ophthalmology (Department B), Tunis 1007, Tunisia
Department of Ophthalmology, Cantonal Hospital St. Gallen, 9000 St. Gallen, Switzerland
Department of Ophthalmology, University of Basel, 4000 Basel, Switzerland
Eye Clinic, Lucerne Cantonal Hospital, 6000 Lucerne, Switzerland
Jules Gonin Eye Hospital, 1004 Lausanne, Switzerland
Department of Ophthalmology, University of Lausanne, 1004 Lausanne, Switzerland
Faculty of Life Sciences, Ecole polytechnique fédérale de Lausanne, 1004 Lausanne, Switzerland
Author to whom correspondence should be addressed.
Genes 2019, 10(12), 953;
Received: 30 October 2019 / Revised: 15 November 2019 / Accepted: 19 November 2019 / Published: 21 November 2019
(This article belongs to the Special Issue Recent Advances in Inherited Eye Disease)
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. View Full-Text
Keywords: BEST1; bestrophinopathy; ARB BEST1; bestrophinopathy; ARB
Show Figures

Figure 1

MDPI and ACS Style

Habibi, I.; Falfoul, Y.; Todorova, M.G.; Wyrsch, S.; Vaclavik, V.; Helfenstein, M.; Turki, A.; El Matri, K.; El Matri, L.; Schorderet, D.F. Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB). Genes 2019, 10, 953.

AMA Style

Habibi I, Falfoul Y, Todorova MG, Wyrsch S, Vaclavik V, Helfenstein M, Turki A, El Matri K, El Matri L, Schorderet DF. Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB). Genes. 2019; 10(12):953.

Chicago/Turabian Style

Habibi, Imen, Yosra Falfoul, Margarita G. Todorova, Stefan Wyrsch, Veronika Vaclavik, Maria Helfenstein, Ahmed Turki, Khaled El Matri, Leila El Matri, and Daniel F. Schorderet. 2019. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes 10, no. 12: 953.

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Back to TopTop