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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile

Fig. 1

Clinical features of the ARB patients in the family. a Color funduscopy (CF) of the proband was normal, overall. b Fundus autofluorescence (FAF) image of the proband showed annular hyperfluorescence around the posterior pole. c OCT results of the proband revealed bilateral cystoid macular edema with subretinal fluid. d The affected younger sister’s ultrasound biomicroscopy (UBM) results showed a shallower anterior chamber depth, and half of the anterior chamber angles were closed. e The affected younger sister’s fundus fluorescence angiography (FFA) revealed mild fluorescence leakage beneath the macula

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BMC Medical Genetics

ISSN: 1471-2350

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