Abstract
Introduction
Classic galactosaemia is caused by a recessively inherited deficiency of the enzyme galactose 1 phosphate uridyl transferase (GALT). Patients with classical galactosaemia are at increased risk of developing cataracts. We sought to retrospectively review the incidence and severity of cataracts in the cohort of galactosaemia patients attending our national treatment centre and to assess a possible effect of dietary compliance on cataract formation and the benefits of regular ophthalmic follow-up.
Methods
We retrospectively reviewed the clinical notes of all patients currently attending our centre with classic galactosaemia and identified all those in whom cataracts had been diagnosed by an ophthalmologist. Compliance to diet was also reviewed and compared with a matched control group.
Results
Of 100 active patient charts, 14 had cataracts diagnosed at some stage. Six of these persisted whereas eight regressed. Three occurred soon after birth. Age at cataract formation varied from soon after birth to 19 years of age. There was no significant difference in the cataract group between those who were compliant and those who were noncompliant with diet (p = 0.09). There was no difference in compliance between the cataract group and the control group (p = 0.16). None of the cataracts found were affecting vision.
Conclusion
Cataracts affecting vision were not found in our cohort. A direct relationship between dietary compliance and cataract formation was not demonstrated. On the basis of our data, regular life-long ophthalmic exam of patients with classic galactosemia seems to be unnecessary.
Take-home message
Cataracts which develop in patients with classical Galactosaemia do not usually affect vision and may be unrelated to compliance to diet.
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Abbreviations
- GALT:
-
Galactose 1 phosphate uridyl transferase
- Gal-1 p:
-
Galactose 1 phosphate
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Acknowledgements
We thank the staff of the unit of the National Centre for Inherited Metabolic Diseases at the Children’s University Hospital (CUH) in Dublin. Special thanks to Olivia Walsh (specialist nurse), Prof. Philip Mayne (National Metabolic Screening Laboratory), and Sister Lanigan in the ophthalmology department. We acknowledge Prof. Eileen Treacy for her invaluable advice.
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Communicated by: Gerard T. Berry
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Widger, J., O’Toole, J., Geoghegan, O. et al. Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?. J Inherit Metab Dis 33, 129–132 (2010). https://doi.org/10.1007/s10545-009-9042-5
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DOI: https://doi.org/10.1007/s10545-009-9042-5