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Article

Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.

Molecular genetics and metabolism - 1 Apr 2022

Garanto Alejandro, Ferreira Carlos R, Boon Camiel J F, van Karnebeek Clara D M, Blau Nenad

Abstract excerpt

Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs). Although ocular involvement is not life-threatening, it can result in severe vision loss, thereby leading to an additional burden for the patient. Retinal degeneration with or without optic atrophy is the most frequent phenotype, followed by oculomotor problems, involvement of the cornea and lens, and...

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Identifiers

PMID: 35227579
DOI: 10.1016/j.ymgme.2022.02.002
PMCID: PMC10518078

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