The Effect of Amino Acid, Carbohydrate, and Lipid Metabolism Disorders on Eyes

Abstract

Inherited metabolic disorders (IMDs) are a class of genetic disorders. Each metabolic disorder may have different forms with different age of onset, clinical manifestations, severity, and even type of inheritance. Ideally, a group of different specialists, including ophthalmologists, pediatricians, biochemists, and medical geneticists are needed for the final diagnosis and management of IMDs. Because of the importance of the aforementioned issue, we investigated the effect of IMDs on the eye in this review. Metabolic disorders can induce abnormalities in conjunctiva, cornea, lens, retina, optic nerve, and eye motility.  In this study, the authors aimed to address the effect of metabolic diseases of amino acids, carbohydrates, and lipids on eye metabolism. Because of the direct toxic mechanisms of abnormal metabolites on the eyes and regarding the effect of eye monitoring on follow-up, management, and treatment of IMDs, a detailed ophthalmological assessment is essential.