65 - Neurometabolic disease and the eye

Abstract

Inherited metabolic diseases, also known as inborn errors of metabolism (IEM), are a diverse group of genetic conditions, many of which present in childhood with ophthalmic manifestations. Although each individual disorder is rare, their cumulative incidence is high (approximately 1 in 800 live births). In some conditions, the characteristic ophthalmic features may lead toward an early diagnosis. In others, the ophthalmic complications present later in the course of the disease but can have significant effect on vision and quality of life. Findings such as vertical or horizontal gaze palsy, characteristic corneal changes, cherry-red spot, retinopathy, or optic atrophy, particularly in the presence of progressive systemic or neurologic disorders, should alert the ophthalmologist to the possibility of a metabolic disorder. IEM can be classified according to their pathophysiological basis, for example lysosomal storage disorders, mitochondrial disorders, peroxisomal disorders, defects of glycosylation, inborn errors of carbohydrate metabolism, disorders of fatty acid or sterol metabolism, and copper transport disorders. Treatment is now available for many of these disorders and results in reduced morbidity, better quality of life and a longer lifespan and therefore the role of the pediatric ophthalmologist in recognition of the potential diagnosis of a metabolic disorder is crucial.