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Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?
Author(s) -
Widger John,
O'Toole Jennifer,
Geoghegan Olivia,
O'Keefe Micheal,
Manning Rosemarie
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-9042-5
Subject(s) - cataracts , human genetics , metabolic disease , galactosemia , medicine , pediatrics , biology , genetics , ophthalmology , biochemistry , galactose , gene
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.