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

Research output: Contribution to journalReview articleAcademicpeer-review

8 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)311-319
Number of pages9
JournalMolecular Genetics and Metabolism
Issue number4
Early online date2022
Publication statusPublished - 1 Apr 2022


  • Eye
  • IEMbase
  • Inborn errors of metabolism
  • Inherited metabolic disorders
  • Ocular phenotypes
  • Ophthalmologic
  • Optic atrophy
  • Retina

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