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ABSTRACT Background: Retinitis pigmentosa (RP) is the most common cause of inherited retinal degeneration and can occur in non… Expand Purpose
To report the clinical characteristics of asymptomatic cases with RP1L1 gene mutations in four families with occult… Expand PURPOSE
To determine the clinical and genetic characteristics of Japanese patients with occult macular dystrophy (OMD) in a… Expand PURPOSE
Occult macular dystrophy (OMD) is an inherited retinal disease characterized by a progressive decrease of vision and… Expand PurposeThe purpose of this study was to present an atypical case of occult macular dystrophy (OMD) with bilateral chronic… Expand In one consanguineous family with retinitis pigmentosa (RP), a condition characterized by progressive visual loss due to retinal… Expand Purpose To determine whether a mutation in the RP1-like protein 1 (RP1L1) gene is present in a Japanese patient with sporadic… Expand Occult macular dystrophy (OMD) is an inherited macular dystrophy characterized by progressive loss of macular function but normal… Expand Retinitis pigmentosa 1 (RP1) is a common inherited retinopathy with variable onset and severity. The RP1 gene encodes a… Expand PURPOSE
To determine the full-length sequence of a gene with similarity to RP1 and to screen for mutations in this newly… Expand