Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens.
Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens.
In this report we studied one sporadic type retinitis punctata albescens patient with the assumption that mutation in the peripherin/RDS gene could contribute to the disease phenotype.
In this report we studied one sporadic type retinitis punctata albescens patient with the assumption that mutation in the peripherin/RDS gene could contribute to the disease phenotype.
Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens.
We evaluated patients with hereditary retinal diseases featuring subretinal spots (retinitis punctata albescens and fundus albipunctatus) and patients with typical dominant or recessive retinitis pigmentosa for mutations in RDH5.
These results indicate that mutations in the RLBP1 gene are not responsible for the ARRP or retinitis punctata albescens in this set of Spanish families.