Association of clinical and genetic heterogeneity with BEST1 sequence variations

Journal article

Importance Detailed phenotypic information on the spectrum of fundus abnormalities and clinical variability of all phenotypes associated with sequence variations in BEST1 is limited.
Objective To report a detailed phenotypic and genetic analysis of a patient cohort with sequence variations in BEST1.
Design, Setting, and Participants This retrospective case series took place at the Oxford Eye Hospital in Oxford, UK. Thirty-six ... Expand abstract

Authors: Shah, M; Broadgate, S; Shanks, M; Clouston, P; Yu, J

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: American Medical Association
• Journal: JAMA Ophthalmology
• Volume: 138
• Issue: 5
• Pages: 544-551
• Publication date: 2020-04-02
• Acceptance date: 2020-02-09
• DOI: 10.1001/jamaophthalmol.2020.0666
• EISSN: 2168-6173
• ISSN: 2168-6165
• Pmid: 32239196
• Language: English
• Keywords: middle aged; genetic heterogeneity; vitelliform macular dystrophy; genetic association studies; bestrophins; FFR; retinitis pigmentosa; visual acuity; genetic testing; slit lamp microscopy; eye diseases, hereditary; tomography, optical coherence; electroretinography; retinal diseases; retrospective studies; aged