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Article

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

Ophthalmology - 1 Apr 2013

Boon Camiel J F, van den Born L Ingeborgh, Visser Linda, Keunen Jan E E, Bergen Arthur A B, Booij Judith C, Riemslag Frans C, Florijn Ralph J, van Schooneveld Mary J

Abstract excerpt

OBJECTIVE: To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB). DESIGN: Retrospective case series. PARTICIPANTS: Ten patients with ARB from 7 different families. METHODS: All patients underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, and fluorescein angiography (FA). In all probands, fundus...

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Identifiers

PMID: 23290749
DOI: 10.1016/j.ophtha.2012.09.057

Genes

ERG
BEST1

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