Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy

Ophthalmic Genetics
Xuan CuiStephen H Tsang

Abstract

Gyrate atrophy (GA) is a rare chorioretinal degeneration that results in the deterioration of night and peripheral vision, eventually leading to blindness. The disorder is caused by mutations in the gene encoding ornithine aminotransferase (OAT), causing increased levels of plasma ornithine. Treatment revolves around lowering plasma ornithine levels, with vitamin B6 supplementation being the preferred treatment. Nevertheless, most patients do not respond to this therapy. Here, we report a rare case of vitamin B6-responsive GA caused by a novel mutation in OAT and characterize the presentation with multimodal imaging. This is a single-patient case report with a clinical diagnosis based on history, multimodal retinal imaging, laboratory findings, and DNA sequencing analysis. We include a 3D structure prediction of the novel mutant protein. DNA sequencing analysis demonstrated that there is a homozygous, novel variant c.473A>C: p.Y158S in OAT. Upon undergoing two weeks of vitamin B6 supplementation, the patient exhibited a 28.5% reduction in plasma ornithine levels. In a follow-up visit two years later, plasma ornithine levels were reduced by 24.1% from the levels at initial presentation and disease progression was retarded based ...Continue Reading

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Citations

Jan 20, 2021·Ophthalmic Genetics·Sagnik SenAyyasamy Vanniarajan
Feb 3, 2021·European Journal of Ophthalmology·Ilkay Kilic MuftuogluJay Chhablani
Oct 18, 2020·Biochimica Et Biophysica Acta. Proteins and Proteomics·Riccardo MontioliBarbara Cellini

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