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

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, and direct sequencing was performed. RESULTS: By 10 years of age, BCVA had increased to 0.8 on the right and 0.9 on the left, with little change thereafter. The fundus continued to show only myopic changes. No changes were seen in the amplitude or implicit time of the a-wave or b-wave or in the b/a-wave ratio. A novel hemizygous insertion mutation, c.1205_1206insT, p.(Glu404Argfs*89), was detected in exon 2 of the NYX gene. CONCLUSION: To our knowledge, this is the longest follow-up of a patient with CSNB1. No changes in the clinical course have been seen during follow-up. We believe that it is important to continue observations and accumulate clinical data for prognostic purposes on patients with CSNB1.