The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

Context:

 Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects.

Evidence Acquisition:

 In this narrative review article, the authors searched Institute for Scientific Information (ISI), Web of Science, PubMed, and Google Scholar for the relevant evidence.

The ocular manifestations of IMDs can be distinguished in different diseases such as Albinism, Cystinosis, Homocystinuria, and Sulfite oxidize deficiency, Mannosidosis, Fucosidosis, Sialidosis, etc.

Due to the direct toxic mechanisms of abnormal metabolites on eyes and regarding the effect of eye monitoring on the follow-up, management, and treatment, a detailed ophthalmological assessment is essential.