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

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

doi:10.1016/j.ymgme.2022.02.002

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

Mol Genet Metab. 2022 Apr;135(4):311-319. doi: 10.1016/j.ymgme.2022.02.002. Epub 2022 Feb 15.

Authors

Alejandro Garanto¹, Carlos R Ferreira², Camiel J F Boon³, Clara D M van Karnebeek⁴, Nenad Blau⁵

Affiliations

¹ Department 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. Electronic address: alex.garanto@radboudumc.nl.
² National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: carlos.ferreira@nih.gov.
³ Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands and Amsterdam University Medical Centers, Academic Medical Center, Department of Ophthalmology, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: camiel.boon@amsterdamumc.nl.
⁴ Department 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; Departments of Pediatrics and Human Genetics, Emma Children's Hospital, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, Amsterdam, the Netherlands. Electronic address: c.d.vankarnebeek@amsterdamumc.nl.
⁵ Division of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.

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.

Keywords: Eye; IEMbase; Inborn errors of metabolism; Inherited metabolic disorders; Ocular phenotypes; Ophthalmologic; Optic atrophy; Retina.

Publication types

Research Support, N.I.H., Intramural
Review

MeSH terms

Humans
Metabolic Diseases* / diagnosis
Metabolic Diseases* / genetics
Phenotype
Retinal Degeneration*
Vision Disorders

Grants and funding

Z99 HG999999/ImNIH/Intramural NIH HHS/United States