why choose us

Course: SLC24A1 -Associated Congenital Stationary Night Blindness in a Woman With an Abnormal Fundus

CME Credits: 1.00

Released: 2022-04-21

A woman aged 42 years with a long-standing history of nyctalopia presented for a complete ocular examination. Best-corrected visual acuity was 20/32 OD and 20/25 OS. On fundus examination, the patient was noted to have bilateral and symmetric atrophic perivascular changes affecting the inferior temporal vascular arcade. These changes merged into a 360° area of peripheral retinal pigment epithelium atrophy and bone-spicule hyperpigmentation, with a peculiar fundus autofluorescence pattern () noted on blue-light fundus autofluorescence. Electrophysiology testing showed a Riggs-type congenital stationary night blindness (CSNB), and genetic testing identified the c.823_824del p.(Val275Hisfs*15) variant in homozygosity in the SLC24A1 gene.


To identify the key insights or developments described in this article


View Full Course