Abstract
Inborn errors of metabolism (IEM) constitute a clinically heterogeneous group of inherited disorders caused by defects that affect various metabolic processes. The incidence of IEM may exceed 1 in 800, and more than 1000 IEM are now known. Although collectively these disorders are common, they are individually rare. They remain under-diagnosed, partly owing to their rarity and also due to the non-specificity of their clinical presentation. Ocular manifestations are recognized for many IEM spanning all characterized categories of these disorders. Very frequently, the pattern of eye involvement constitutes an important diagnostic clue suggesting a narrow differential diagnosis. This chapter reviews the major IEM known to have notable eye manifestations.
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Ganesh, A., Al-Murshedi, F., Al-Zuhaibi, S., Al-Thihli, K. (2017). Ocular Manifestations of Inborn Errors of Metabolism. In: Levin, A., Enzenauer, R. (eds) The Eye in Pediatric Systemic Disease. Springer, Cham. https://doi.org/10.1007/978-3-319-18389-3_13
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