Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina

ConclusionsZNF408-associated retinal dystrophies can present with predominantly retinal findings and should be considered in the differential diagnosis of retinitis pigmentosa. Our study revealed a novel variant p.L566H, which to our knowledge has not previously been reported.

http://link.springer.com/10.1007/s10633-021-09847-7

Source: Documenta Ophthalmologica - July 14, 2021 Category: Opthalmology Source Type: research