Abstract
Purpose: :
Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing the patient to retinal tears and detachment. Since it has been suggested that the collagen type II alpha 1 (COL2A1) gene variants may cause retinal detachment, we investigated whether COL2A1 variants are associated with lattice degeneration of the retina.
Methods: :
Five hundred and fifty Japanese patients with lattice degeneration of the retina and 640 Japanese healthy controls were recruited. We genotyped 9 single-nucleotide polymorphisms (SNPs) in the COL2A1 gene and assessed the allelic diversity among cases and controls.
Results: :
The major allele of rs1793953 had a significantly increased risk of lattice degeneration of the retina (P = 0.018, OR = 1.23, 95% CI = 1.04-1.45) whereas the other SNPs did not show significant results.
Conclusions: :
Our results suggest that the COL2A1 gene may play an important role in the largely unknown pathophysiology of lattice degeneration of the retina.
Keywords: genetics • retinal detachment