ABSTRACT
Objective: To investigate TGFB1 and LAMA1 gene polymorphisms in children with high myopia in order to determine the genetic basis of large myopic shifts causing severe visual impairment and complications
Methods: Seventy-four children with high myopia [>/=6 diopters [D]; study group] and 77 emmetropic children [+/-0.5D; control group] were included. Genetic and polymorphism analyses were performed in the Medical Genetics Laboratory using DNA purified from the patients' blood samples
Results: Mean ages of the patients were 7.1+/-3 [3-13] and 9.6+/-1.8 [6-13] years in the study and control groups, respectively. Mean refraction in the high myopia group were -10.1+/-4.3D in the right and -8.9+/-3.6D in the left eye. LAMA1 gene analysis of the study group revealed heterozygous mutations in 34 patients [45.9%], homozygous mutations in 25 patients [33.8%], and no mutations in the remaining 15 patients [20.3%]. In the control group, there were 31 subjects [40.3%] with heterozygous, 27 [35.1%] with homozygous LAMA1 mutations, and no mutations in 19 [24.7%] [p=0.73]. TGFB1 gene analysis showed heterozygous mutations in 32 [43.2%] and homozygous mutations in 10 patients [13.5%] in the study group, while 32 patients [43.2%] had no mutations. In the control group, 35 subjects [45.5%] had heterozygous, 8 [10.4%] had homozygous, and 34 [44.1%] had no TGFB1 mutations [p=0.36]
Conclusion: This is the first study to simultaneously examine two genes in high myopia in a Turkish population. However, we observed no significant differences in TGFB1 and LAMA1 gene polymorphisms in patients with high myopia compared to healthy subjects