A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy

CONCLUSION: Our knowledge about the diagnosis and treatment of GACR can be improved by identifying novel mutations in the OAT gene and accurate follow-up of the patients to determine how they respond to treatment.PMID:38638626 | PMC:PMC11022026 | DOI:10.18502/jovr.v19i1.15446
Source: Journal of Ophthalmic and Vision Research - Category: Opthalmology Authors: Source Type: research