Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the <i>BEST1</i> Gene

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the <i>BEST1</i> Gene

Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical coherence tomography (OCT). Molecular genetic tes...

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Bibliographic Details
Main Authors: Karsten Hufendiek, Katerina Hufendiek, Herbert Jägle, Heidi Stöhr, Marius Book, Georg Spital, Günay Rustambayova, Carsten Framme, Bernhard H. F. Weber, Agnes B. Renner, Ulrich Kellner
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:International Journal of Molecular Sciences
Subjects:
autosomal recessive bestrophinopathy (ARB)
inherited retinal dystrophy
<i>BEST1</i>
bestrophin-1
fundus autofluorescence
optical coherence tomography
Online Access:https://www.mdpi.com/1422-0067/21/24/9353

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https://www.mdpi.com/1422-0067/21/24/9353

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