Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus
Scientific Reports2017Vol. 7(1), pp. 46285–46285
Citations Over Time
Abstract
Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, RDH5, RLBP1 and RPE65, were screened by direct sequencing. Mutations in RDH5 were identified in three families and mutations in RPE65 were identified in one family. This is the second reported case of FA caused by mutations in RPE65.
Related Papers
- → Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle(1998)925 cited
- → RPE65 is the isomerohydrolase in the retinoid visual cycle(2005)529 cited
- → RPE65Gene Delivery Restores Isomerohydrolase Activity and Prevents Early Cone Loss inRpe65−/−Mice(2006)79 cited
- RPE65 Gene Therapy Promotes Survival Of S-cones In The RPE65-deficient Dog(2011)
- RPE65 Gene Delivery Effectively Restores the Retinol Isomerase Activity in the Rpe65–/– Mouse(2005)