Biomaterial Database

Ocular manifestations of metabolic disorders. 1994

F Iwata, and M I Kaiser-Kupfer

Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, Maryland, USA.

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.

UI	MeSH Term	Description	Entries
D008074	Lipoproteins	Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.	Circulating Lipoproteins,Lipoprotein,Lipoproteins, Circulating
D008247	Lysosomes	A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed).	Autolysosome,Autolysosomes,Lysosome
D008659	Metabolic Diseases	Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)	Thesaurismosis,Diseases, Metabolic,Disease, Metabolic,Metabolic Disease,Thesaurismoses
D005128	Eye Diseases	Diseases affecting the eye.	Eye Disorders,Eye Disease,Eye Disorder
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000596	Amino Acids	Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.	Amino Acid,Acid, Amino,Acids, Amino
D050260	Carbohydrate Metabolism	Cellular processes in biosynthesis (anabolism) and degradation (catabolism) of CARBOHYDRATES.	Metabolism, Carbohydrate
D050356	Lipid Metabolism	Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.	Metabolism, Lipid