Abstract
Abstract: :
Purpose: Normal tension glaucoma (NTG) accounts for approximately 30% of open angle glaucoma. A recent report suggested that a double polymorphism (C/T:C/T at positions +4 and +32) in intron 8 of the dominant optic atrophy gene (OPA1) is associated with NTG. The present study investigated the occurrence of these polymorphisms in a small series of NTG patients and normal controls. Methods: We sequenced intron 8 of the OPA1 gene in 27 NTG patients and 24 normal controls using previously described primers. Results: The double polymorphism (C/T:C/T) was detected in 5/27 (18.5%) NTG patients and 6/24 (25%) normal controls (chi square = 0.316, p = 0.57). The distribution of allele frequencies was 85%C:15%T (NTG) versus 87%C:13%T (normals) at the +4 position, and 51%C:49%T (NTG) versus 42%C:58%T (normals) at the +32 position. Conclusion: Despite the small numbers so far analysed, these results show that the C/T:C/T polymorphism occurs with a similar frequency in individuals with NTG as compared to the normal population.