Article
Neuro-Ophthalmic Phenotype of OPA3.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Mar 2022
Huna-Baron Ruth, Yahalom Gilad, Anikster Yair, Ben Zeev Bruria, Hoffmann Chen, Hassin-Baer Sharon
Abstract excerpt
BACKGROUND: Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy. Since Costeff described the phenotype of 19 patients in 1989, several reports described approximately 50 patients, but most of them lack details about neuro-ophthalmic phenotype. Our aim was to characterize the clinical neuro-ophthalmic phenotype of this syndrome. METHODS:...
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