CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness

CONCLUSIONS: In children, CACNA1F-associated synaptic dysfunction does not usually present with night blindness. It should be suspected in male patients with early-onset myopia, especially with a history of nystagmus.PMID:38159912 | DOI:10.1016/j.jcjo.2023.11.022

Source: Canadian Journal of Ophthalmology - December 30, 2023 Category: Opthalmology Authors: Alina V Dumitrescu Wanda L Pfeifer Monica Arhens Jeaneen L Andorf Arlene V Drack Source Type: research