High Prevalence of Mutations in theEYSGene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

Citations Over TimeTop 19% of 2012 papers

Abstract

One-third of Japanese patients with nonsyndromic arRP carried probable pathogenic mutations in the EYS gene, including two founder mutations. Because the genotype was correlated with the phenotype, genotyping in the EYS gene could be a valuable tool for predicting long-term prognoses of Japanese patients with arRP and thus could be useful for genetic counseling and future gene therapy.

Related Papers

• A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes.(2000)
• → A case of CRB1-negative Coats-like retinitis pigmentosa(2013)9 cited
• → Retinitis Pigmentosa(2007)
• → Retinitis Pigmentosa(2006)
• Retinitis pigmentosa : causes, diagnosis and treatment(2010)