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Article

Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2012

Renner Agnes B, Walter Andreas, Fiebig Britta S, Jägle Herbert

Abstract excerpt

We report the clinical and genetic data obtained at a 17-year follow-up examination of a patient with gyrate atrophy, without an arginine-restricted diet. Patient examinations included visual acuity (VA), perimetry, biomicroscopy, funduscopy, fundus photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (OCT), and standard full-field electroretinography (ERG). Blood samples were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22674428
DOI: 10.1007/s10633-012-9335-0

Genes

OAT
ERG

Variants

Provenance

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