Any isolated retinopathy caused by variants in the HGSNAT gene.
Comprehensive, easy-to-understand information about this condition
Checking for content...
No external resources available.
retinal dystrophies primarily involving Bruch's membrane
MONDO:0001666
vitreoretinal dystrophy
MONDO:0001923
dystrophies primarily involving the retinal pigment epithelium
MONDO:0001924
retinal dystrophy in systemic or cerebroretinal lipidoses
MONDO:0001925
age-related macular degeneration
MONDO:0005150
helicoid peripapillary chorioretinal degeneration
MONDO:0007176