Ocular manifestations of metabolic disorders.
Articles published during the past year on the ocular manifestations of metabolic diseases and related issues are reviewed. The focus is on clarifying the genetic or molecular basis of various metabolic disorders. Mutations of the P gene were reported in tyrosinase-positive oculocutaneous albinism and autosomal recessive ocular albinism, and were associated with a wide range of clinical phenotypes. This finding should aid in more accurate diagnosis and facilitate genetic counseling. There is no consensus but the horizontal supranuclear gaze palsy in Gaucher's disease may aid in subtyping. The report of a family with Morquio syndrome suggests that lenticular opacities should be considered as an additional finding in this syndrome. Patients with nephropathic cystinosis, which had been a fatal disease in childhood, are now surviving to adulthood. Serious ocular complications were described in adults.
Iwata
F
F
Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, Maryland, USA.
Kaiser-Kupfer
M I
MI
D000596:Amino Acids / Q000378:metabolism; D050260:Carbohydrate Metabolism; D005128:Eye Diseases / Q000175:diagnosis*; D006801:Humans; D050356:Lipid Metabolism; D008074:Lipoproteins / Q000378:metabolism; D008247:Lysosomes / Q000201:enzymology; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000378:metabolism