Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases

Figure 1

Slit photograph of right (a) and left (b) eyes of patient number 1. She underwent surgical peripheral iridotomy (PI) and trabeculectomy in her both eyes for angle-closure glaucoma. Fundus photo of right and left eyes (c) shows total cup-to-disc ratio and yellow subfoveal materials. Fluorescein angiography of left eye with peripheral views (d) shows staining of yellow vitelliform materials without peripheral leakage. Optical coherence tomography (OCT) of right (e) and left (f) eyes show subfoveal hyporeflective space in both eyes with elongated photoreceptors and intraretinal schisis cavities in inner nuclear layer (INL) and outer nuclear layer (ONL). There are also deposits of debris in the subretinal space mimicking RPE hypertrophy in both eyes.

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