Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations

ConclusionsHeterozygous mutations in thePAX6 gene can cause FVH1 with nearly normal appearing macula. FVH1 is difficult to diagnose, but detailed observations of the foveal structure and vasculature, and detecting the presence of goniodysgenesis can be helpful in identifying patients with FVH1.
Source: Japanese Journal of Ophthalmology - Category: Opthalmology Source Type: research