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Purpose To present the clinical and genetic findings in two siblings with autosomal recessive retinitis pigmentosa (RP) and their non-symptomatic parents. Methods We studied two siblings, a 48-year-old woman and her 44-year-old brother, and their parents. They had general ophthalmic examinations including ophthalmoscopy, perimetry, and electroretinography (ERG). Their whole exomes were analyzed...
Background EYS mutations have been identified only in patients with autosomal recessive retinitis pigmentosa (arRP). This study was conducted to describe clinical and genetic features of a Japanese patient with autosomal recessive cone–rod dystrophy (arCRD) and EYS mutations. Methods We performed complete ophthalmic examinations including full-field electroretinography (ERG). Genetic analysis using...
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