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Article

Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.

Human genetics - 1 Jul 2022

Matmat Karim, Guéant-Rodriguez Rosa-Maria, Oussalah Abderrahim, Wiedemann-Fodé Arnaud, Dionisi-Vici Carlo, Coelho David, Guéant Jean-Louis, Conart Jean-Baptiste

Abstract excerpt

Inherited disorders of cobalamin (cbl) metabolism (cblA-J) result in accumulation of methylmalonic acid (MMA) and/or homocystinuria (HCU). Clinical presentation includes ophthalmological manifestations related to retina, optic nerve and posterior visual alterations, mainly reported in cblC and sporadically in other cbl inborn errors.We searched MEDLINE EMBASE and Cochrane Library, and analyzed articles reporting...

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Identifiers

PMID: 34652574
DOI: 10.1007/s00439-021-02350-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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