Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up

ConclusionsThis work is the first long-term case study of a patient with Oguchi disease associated with the MEWDS. The recovery period of symptoms caused by the MEWDS was much longer than that in typical patients with MEWDS. Molecular genetics demonstrate that this is the first case of Oguchi disease caused by splicing alterations in theSAG gene.

http://link.springer.com/10.1007/s10633-020-09766-z

Source: Documenta Ophthalmologica - April 23, 2020 Category: Opthalmology Source Type: research