Ocular findings in several metabolic diseases.
Changes in ocular findings have been noted in association with several metabolic diseases. In homocystinuria the crystalline lens in the majority of cases is subluxated inferiorly, while in Marfan's syndrome the dislocation was upward. In cystinosis, slit-lamp examination reveals numerous gold crystal-like cystine deposits in both the cornea and bulbar conjunctiva. Patients with galactosemia have cataracts of the "oil drop" type, which usually can be seen with an ophthalmoscope even though the opacity is not dense. Eight patients with Lowe's syndrome who were observed had cataracts, and four of them had severe glaucoma. Three of five patients with glycogen storage disease Type I had yellowish deposits in the macular and paramacular areas, thought to be due to hypercholesterolemia.
D003554:Cystinosis / Q000150:complications; D005132:Eye Manifestations; D005693:Galactosemias / Q000150:complications; D006712:Homocystinuria / Q000150:complications; D006801:Humans; D008659:Metabolic Diseases / Q000150:complications*; D008661:Metabolism, Inborn Errors / Q000150:complications