ABSTRACT

Ocular involvement in inherited metabolic disorders may manifest primarily or secondarily. Ocular findings may be the sole manifestation of the disorder or may accompany other systemic signs. The toxic effect of abnormal metabolites or the excessive accumulation of normal metabolites is responsible for the pathogenesis. Corneal involvement may be severe enough to require keratoplasty especially in mucopolysaccharidoses. Cataract formation is mostly observed in glucose metabolism defects. Lens subluxations are frequent in homocystinuria, sulphite oxidase deficiency and hyperlysinemia. Retinopathies may be seen in lipid metabolism defects, lysosomal disorders and gyrate atrophy. Optic neuropathy may be found in mitochondrial, lysosomal diseases or leukodystrophies. Involvement of retina and optic disc usually has poor prognosis even after treatment. (Turk J Ophthalmol 2011; 41: 43-8)