Article
A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report.
BMC ophthalmology - 4 Mar 2022
Deng Zhen, Fan Fangli, Tang Danyan, Wu Yifeng, Shu Yujie, Wu Kunlin
Abstract excerpt
BACKGROUND: Oguchi disease is a rare autosomal recessive form of congenital quiescent night blindness. Oguchi disease has been found to be associated with gene mutations in SAG and GRK1, which are vital factors in the recovery phase of phototransduction after light stimuli. We report a case of Oguchi disease with novel heterozygous mutations in SAG. CASE PRESENTATION: A 7-year-old girl with a history of night...
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