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Ophthalmic findings in classical galactosemia--a screened population.
J Pediatr Ophthalmol Strabismus. 1989 Jul-Aug; 26(4):165-8.JP

Abstract

Classical galactosemia due to a deficiency of galactose-1-phosphate-uridyl transferase, is an autosomal recessive disorder of galactose metabolism with an incidence in Ireland of one in 30,000 births. It can result in cataract formation through the accumulation of galactitol within the lens. Seventeen children with transferase deficient galactosemia were studied. Early diagnosis followed by a galactose-free diet and tight biochemical control prevented cataract formation in 13 cases after a mean follow-up of 6.3 years. Cataracts did not regress in all patients commenced on diet by 6 weeks but early treatment prevented progression. The ophthalmologist may play an important role in the monitoring of patients with this disease as the recognition of new lens opacities by slit-lamp biomicroscopy may be the most sensitive initial index of inadequate biochemical control.

Authors+Show Affiliations

Department of Paediatric Ophthalmology, Children's Hospital, Dublin, Ireland.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2760788

Citation

Burke, J P., et al. "Ophthalmic Findings in Classical Galactosemia--a Screened Population." Journal of Pediatric Ophthalmology and Strabismus, vol. 26, no. 4, 1989, pp. 165-8.
Burke JP, O'Keefe M, Bowell R, et al. Ophthalmic findings in classical galactosemia--a screened population. J Pediatr Ophthalmol Strabismus. 1989;26(4):165-8.
Burke, J. P., O'Keefe, M., Bowell, R., & Naughten, E. R. (1989). Ophthalmic findings in classical galactosemia--a screened population. Journal of Pediatric Ophthalmology and Strabismus, 26(4), 165-8.
Burke JP, et al. Ophthalmic Findings in Classical Galactosemia--a Screened Population. J Pediatr Ophthalmol Strabismus. 1989 Jul-Aug;26(4):165-8. PubMed PMID: 2760788.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ophthalmic findings in classical galactosemia--a screened population. AU - Burke,J P, AU - O'Keefe,M, AU - Bowell,R, AU - Naughten,E R, PY - 1989/7/1/pubmed PY - 1989/7/1/medline PY - 1989/7/1/entrez SP - 165 EP - 8 JF - Journal of pediatric ophthalmology and strabismus JO - J Pediatr Ophthalmol Strabismus VL - 26 IS - 4 N2 - Classical galactosemia due to a deficiency of galactose-1-phosphate-uridyl transferase, is an autosomal recessive disorder of galactose metabolism with an incidence in Ireland of one in 30,000 births. It can result in cataract formation through the accumulation of galactitol within the lens. Seventeen children with transferase deficient galactosemia were studied. Early diagnosis followed by a galactose-free diet and tight biochemical control prevented cataract formation in 13 cases after a mean follow-up of 6.3 years. Cataracts did not regress in all patients commenced on diet by 6 weeks but early treatment prevented progression. The ophthalmologist may play an important role in the monitoring of patients with this disease as the recognition of new lens opacities by slit-lamp biomicroscopy may be the most sensitive initial index of inadequate biochemical control. SN - 0191-3913 UR - https://www.unboundmedicine.com/medline/citation/2760788/Ophthalmic_findings_in_classical_galactosemia__a_screened_population_ L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -