Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.
Marina Soto-SierraMaría José Morillo-SánchezMarta Martín-SánchezManuel Ramos-JiménezMireia López-DomínguezBeatriz Ponte-ZuñigaGuillermo AntiñoloEnrique Rodríguez-de-la-RúaPublished in: European journal of ophthalmology (2021)
ARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease.
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