Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations

Abstract

Background: Presenile cataract is commonly idiopathic in origin. However, patients with presenile cataract could have an underlying genetic abnormality of galactose metabolism. We studied the association, if any, between idiopathic presenile cataract and galactose-1 -phosphate uridyl transferase (GALT) gene mutation.

Methods: We selected 50 patients with idiopathic presenile cataract, <45 years of age, and 50 age- and sex-matched controls for the study. Mutations in the GALT gene were determined by polymerase chain reaction restriction fragment length polymorphism. The classical galactosaemia was characterized by Q188R and K285N mutations, whereas Duarte galactosaemia by N314D mutations (Duarte-2: N314D with IVS5-24G >A and Duarte-1: N314D without IVS5- 24G>A).

Results: The most common mutation observed was the N314D (Duarte) mutation. The frequencies of classical and N31 4D alleles in patients with presenile cataract (16%) and controls (26%) were not statistically different (p=0.32, OR 0.54, 95% CI 0.20-1.45). Similarly, there was no statistically significant difference in the frequency distribution of Duarte-1 (p=0.77, OR 0.77, 95% CI 0.23-0.24) and Duarte-2 (p=0.44, OR 0.38, 95% CI 0.07-2.03) galactosaemia mutations in patients and controls.

Conclusion: Duarte galactosaemia, a milder form of the disease, is more common than classical galactosaemia in the Indian population. Duarte galactosaemia is unlikely to be a causative factor in presenile cataract.