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Updated: Oct 2, 2025

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes
Alejandro Garanto1, Carlos R Ferreira2, Camiel J F Boon3
1Department of Pediatrics, Amalia Children's Hospital Radboud Center for Mitochondrial and Metabolic Diseases, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Abstract:
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 refractive errors. These phenotypes can provide valuable clues that contribute to its diagnosis. In this issue we found 577 relevant IMDs leading to ophthalmologic manifestations. This article is the seventh of a series attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.
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