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Article

Retinal structure, function, and molecular pathologic features in gyrate atrophy.

Ophthalmology - 1 Mar 2012

Sergouniotis Panagiotis I, Davidson Alice E, Lenassi Eva, Devery Sophie R, Moore Anthony T, Webster Andrew R

Abstract excerpt

PURPOSE: To describe phenotypic variability and to report novel mutational data in patients with gyrate atrophy. DESIGN: Retrospective case series. PARTICIPANTS: Seven unrelated patients (10 to 52 years of age) with clinical and biochemical evidence of gyrate atrophy. METHODS: Detailed ophthalmologic examination, fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence...

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Identifiers

PMID: 22182799
DOI: 10.1016/j.ophtha.2011.09.017

Genes

OAT

Provenance

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