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Oguchi type I caused by a homozygous missense variation in the SAG gene
Leonardo Colombo1, Andi Abeshi2, Paolo E Maltese2
1Department of Ophthalmology, San Paolo Hospital, University of Milan, Milan, Italy.
Abstract:
Oguchi disease, is a very rare form of night blindness caused by biallelic variations in the SAG or GRK1 genes, both involved in rod restoration after light stimuli. Here we report the clinical and genetic findings of an 8-year old boy with a history of reduced visual acuity, nyctalpia and hemeralopia. Clinical findings, in particular the Mizuo-Nakamura phenomenon, were compatible with a diagnosis of Oguchi disease. Genetic testing revealed a novel missense homozygous variation in the SAG gene. This is the first evidence that the disease can be caused by missense variations in this gene.
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