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Idiopathic presenile cataract formation and galactosaemia.

Abstract

Five hundred patients undergoing cataract surgery were prospectively examined, and 46 Caucasian patients were found to have strictly idiopathic cataracts severe enough to warrant surgery on or before age 55. In a masked fashion we determined the activity of galactokinase (GK) and galactose-1-phosphate uridyl transferase (GPUT) in these patients as well as on 53 age matched controls. With respect to GK no cataract patient had an enzyme level of less than 2 standard deviations below the control mean. However, 3 of 45 (6.7%) patients in the cataract group had a GPUT level less than 2 standard deviations below the mean for controls, and were presumably heterozygotes for this enzyme. In comparison with the expected population rate of 0.8% this is highly significant (p = 0.006). Abnormalities in galactose pathway enzymes may therefore predispose to development of presenile cataracts. In affected people there is a possibility of treating these patients clinically by dietary restriction of dairy products or by using aldose reductase inhibitors to prevent or reverse cataract formation.

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  • Authors+Show Affiliations

    ,

    Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, Maryland.

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    Source

    MeSH

    Adult
    Cataract
    Cataract Extraction
    Erythrocytes
    Female
    Galactokinase
    Galactose
    Galactosemias
    Humans
    Male
    Middle Aged
    Nucleotidyltransferases
    UTP-Hexose-1-Phosphate Uridylyltransferase

    Pub Type(s)

    Journal Article
    Research Support, U.S. Gov't, P.H.S.

    Language

    eng

    PubMed ID

    2537652

    Citation

    Stevens, R E., et al. "Idiopathic Presenile Cataract Formation and Galactosaemia." The British Journal of Ophthalmology, vol. 73, no. 1, 1989, pp. 48-51.
    Stevens RE, Datiles MB, Srivastava SK, et al. Idiopathic presenile cataract formation and galactosaemia. Br J Ophthalmol. 1989;73(1):48-51.
    Stevens, R. E., Datiles, M. B., Srivastava, S. K., Ansari, N. H., Maumenee, A. E., & Stark, W. J. (1989). Idiopathic presenile cataract formation and galactosaemia. The British Journal of Ophthalmology, 73(1), pp. 48-51.
    Stevens RE, et al. Idiopathic Presenile Cataract Formation and Galactosaemia. Br J Ophthalmol. 1989;73(1):48-51. PubMed PMID: 2537652.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Idiopathic presenile cataract formation and galactosaemia. AU - Stevens,R E, AU - Datiles,M B, AU - Srivastava,S K, AU - Ansari,N H, AU - Maumenee,A E, AU - Stark,W J, PY - 1989/1/1/pubmed PY - 1989/1/1/medline PY - 1989/1/1/entrez SP - 48 EP - 51 JF - The British journal of ophthalmology JO - Br J Ophthalmol VL - 73 IS - 1 N2 - Five hundred patients undergoing cataract surgery were prospectively examined, and 46 Caucasian patients were found to have strictly idiopathic cataracts severe enough to warrant surgery on or before age 55. In a masked fashion we determined the activity of galactokinase (GK) and galactose-1-phosphate uridyl transferase (GPUT) in these patients as well as on 53 age matched controls. With respect to GK no cataract patient had an enzyme level of less than 2 standard deviations below the control mean. However, 3 of 45 (6.7%) patients in the cataract group had a GPUT level less than 2 standard deviations below the mean for controls, and were presumably heterozygotes for this enzyme. In comparison with the expected population rate of 0.8% this is highly significant (p = 0.006). Abnormalities in galactose pathway enzymes may therefore predispose to development of presenile cataracts. In affected people there is a possibility of treating these patients clinically by dietary restriction of dairy products or by using aldose reductase inhibitors to prevent or reverse cataract formation. SN - 0007-1161 UR - https://www.unboundmedicine.com/medline/citation/2537652/Idiopathic_presenile_cataract_formation_and_galactosaemia_ L2 - http://bjo.bmj.com/cgi/pmidlookup?view=long&pmid=2537652 DB - PRIME DP - Unbound Medicine ER -