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Article

Ophthalmologic findings in a patient with methylmalonic acidemia and the N219Y mutase mutation.

Archivos de la Sociedad Espanola de Oftalmologia - 1 Nov 2025

Rabinovich Mark, Vandekerckhove Kristof, Gericke Adrian

Abstract excerpt

We document the clinical ocular presentation of methylmalonic acidemia (MMA) with a mutase defect, specifically the MUT N219Y variant, in a 27-year-old female who presented with sudden bilateral visual acuity deterioration. The ophthalmologic workup included visual acuity testing, biomicroscopic and fundus examinations, macular spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence,...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Optic Nerve Diseases

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Identifiers

PMID: 41101523
DOI: 10.1016/j.oftale.2025.10.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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