Isolated rod dysfunction associated with a novel genotype of

To describe the clinical and electrophysiological features of an unusual retinopathy in a patient with a novel genotype of A 61-year old asymptomatic woman was referred to the inherited retinal disorders clinic because of peripheral retinal pigmentary changes. She had normal visual acuity and color vision. Clinical examination and detailed imaging of the macula were normal, but there was atrophy of the outer retina in the periphery with sparse intra-retinal pigmentation. Electroretinography (ERG) revealed undetectable rod responses, with normal cone-mediated responses. The pattern ERG was normal. Genetic analysis identified two previously unreported variants in This report describes a functionally cone-isolated retina in an adult, apparently hemizygous for a novel missense mutation in