The eye in metabolic disease

Hospital Medicine

Volumn 64, Issue 10, 2003, Pages 609-612

  Al Khaier, Ayman ^a,b   Nischal, Ken K ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b QUEEN VICTORIA HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; AMIODARONE; INDOMETACIN; PENICILLAMINE; PHENOTHIAZINE DERIVATIVE; RETINOL; SUCCINIC ACID; TRIENTINE; UBIDECARENONE; VITAMIN K GROUP; ZINC;

ALBINISM; ATAXIA; CEREBRAL BLINDNESS; CHELATION; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CORNEA DISEASE; CYSTINOSIS; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DISORDERS OF PEROXISOMAL FUNCTIONS; DRUG EFFICACY; ENZYME DEFICIENCY; EYE DISEASE; FABRY DISEASE; GALACTOSEMIA; GAUCHER DISEASE; HEMIPLEGIA; HOMOCYSTINURIA; HUMAN; ION TRANSPORT; KEARNS SAYRE SYNDROME; LEBER HEREDITARY OPTIC NEUROPATHY; LIPIDOSIS; LIPOPROTEIN DEFICIENCY; LIVER DISEASE; MANNOSIDOSIS; MELAS SYNDROME; METABOLIC DISORDER; MITOCHONDRIAL MYOPATHY; MUCOPOLYSACCHARIDOSIS; NERVE DEGENERATION; NEURONAL CEROID LIPOFUSCINOSIS; NIEMANN PICK DISEASE; NYSTAGMUS; REFSUM DISEASE; RESPIRATORY DISTRESS; RETINITIS PIGMENTOSA; REVIEW; SIDE EFFECT; STEROL METABOLISM; TYROSINEMIA; VISUAL FIELD DEFECT; WILSON DISEASE; DISORDERS OF CARBOHYDRATE METABOLISM; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; FORECASTING; METABOLISM;

AMINO ACID METABOLISM, INBORN ERRORS; CARBOHYDRATE METABOLISM, INBORN ERRORS; EYE DISEASES; FORECASTING; HEPATOLENTICULAR DEGENERATION; HUMANS; LIPID METABOLISM, INBORN ERRORS; METABOLIC DISEASES; MITOCHONDRIAL DISEASES; NEURONAL CEROID-LIPOFUSCINOSES; PEROXISOMAL DISORDERS; SPHINGOLIPIDOSES;

EID: 0642281044     PISSN: 14623935     EISSN: None     Source Type: Journal    
DOI: 10.12968/hosp.2003.64.10.2328     Document Type: Review

References (12)

1. Berson EL (1982) Nutrition and retinal degenerations: vitamin A, taurine, ornithine and phytanic acid. Retina 2: 236-55
2. Blom TS, Linder MD, Snow K et al (2003) Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum Mol Genet 12(3): 257-72
3. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet 5: 327-37
4. Chowers I, Banin E, Merin S, Cooper M, Granot E (2001) Long term assessment of combined vitamin A and E treatment for the prevention of the retinal degeneration in abetalipoproteinaemia and hypolipoproteinaemia patients. Eye 15(Pt4): 525-30
5. Cogan DG, Chu FC, Reingold D, Barranger J (1981) Ocular motor signs in some metabolic diseases. Arch Ophthalmol 99(10): 1802-8
6. Driscoll DJ, Jabs EW, Alcorn D, Maumenee IH, Brusilow SW, Valle D (1988) Corneal tyrosine crystals in transient neonatal tyrosinemia. J Pediatr 113: 91-3
7. Jones NP, Postlethwaite RJ, Noble JL (1991) Clearance of corneal crystals in nephropathic cystinosis by topical cysteamine 0.5%. Br J Ophthalmol 75: 311-12
8. Kayser-Kupfer MI, Caruso RC, Minkler DS, Gahl WA (1986) Long term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol 104: 706-11
9. Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC (1989) Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc Natl Acad Sci USA 86: 7952-6
10. Stambolian D, Scarpino-Myers V, Eagle RC Jr, Hodes B, Harris H (1986) Cataracts in patients heterozygous for galactokinase deficiency. Invest Ophthalmol Vis Sci 27(3): 429-33
11. Taylor D (1997) Paediatric Ophthalmology. 2nd edn. Blackwell Science, Oxford
12. Yarze JC, Martin P, Munoz SJ, Friedman LS (1992) Wilson's disease: current status. Am J Med 92: 643-54