Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness.

ABSTRACT: BACKGROUND:This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. CASE:The patient first visited our hospital as a 7-year-old boy with a complaint of low visual acuity. Best corrected visual acuity (BCVA) was 0.5 in the right eye and 0.6 in the left eye. The refractive error was approximately -5.0 D in both eyes. The fundus showed only myopic changes. A bright-flash electroretinogram (ERG) revealed a negative configuration. We diagnosed CSNB and corrected the refractive error with glasses. We continued to monitor the ERG and various waveform components as well as visual acuity and the appearance of the fundus. All NYX exons were screened for a causative mutation by polymerase chain reaction amplification, a

SUBMITTER: Kurata K 

PROVIDER: S-EPMC5422747 | biostudies-literature | 2017 Jan-Apr

REPOSITORIES: biostudies-literature