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

Xiao LiuLixia GaoGang WangYanling LongJiayun RenKaoru FujinamiXiaohong MengShi-Ying Li

Published in: Documenta ophthalmologica. Advances in ophthalmology (2020)

This 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 the SAG gene.

Keyphrases

case report
gene expression
dna methylation
copy number
transcription factor
depressive symptoms