Abstract
The eye involvement in the context of inborn errors of metabolism (IEMs) is an evolving field of knowledge in disease identification and monitoring. Ophthalmological findings are frequent in several inherited metabolic diseases and as early and obvious signs often central in the diagnostic process. Ophthalmological impairment generally occurs early in life with symmetrical involvement. In the present chapter, ophthalmological impairment in IEMs will be presented, divided into anterior or posterior eye chamber involvement and according to tissue impairment. Signs and symptoms will be then discussed with regard to diagnostic and prognostic clues. The role of eye monitoring in the disease follow-up and in testing new tailored therapies efficacy will be further examined.
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Burlina, A., Celato, A., Burlina, A.P. (2017). Eye Disorders. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_30
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DOI: https://doi.org/10.1007/978-3-662-49410-3_30
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