RESUMO
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
RESUMO
Bilateral acute iris transillumination [BAIT] is a recently defined disease characterized with bilateral acute, severe pigment dispersion of iris and pupil sphincter paralysis. The etiopathogenesis of the disease is unknown, but antibiotics such as moxifloxacin, clarithromycin, viral infections, and fumigation therapies were considered as probable etiologic factors. A 33-year-old female was referred to our clinic for acute iridocyclitis refractory to azathioprine, colchicum and corticosteroid treatments. Ophthalmic examination revealed bilateral pigment dispersion, significant iris transillumination, heavy pigment deposition in iridocorneal angle, and elevated intraocular pressure. Upon systemic evaluation she was found to have bacterial urinary tract infection. BAIT is an important cause of pigment dispersion and clinicians must be vigilant for this condition to avoid unnecessary diagnostic tests and treatment
RESUMO
An 8-year-old mentally retarded boy is brought to the hospital because of itching and burning at his right eye for 10 days. He was on full time right eye occlusion therapy for left amblyopia. Slit lamp examination revealed nits and adult lice anchored to the eyelashes in his occluded eye. Eyelashes and all detected lice and nits were mechanically trimmed, and sent for parasitological examination, which confirmed the diagnosis. Upon familial evaluation for additional infestation, the father was also found to have genital phthiriasis pubis and received appropriate treatment. While phthiriasis palpebrarum in children may signify sexual abuse, a detailed investigation by a child psychiatrist was performed and revealed no sign of abuse. Since the infestation was at only on occluded eye, the most possible explanation for the transmission was evaluated as the misusage of the adhesive patch in our case. In conclusion, sexual abuse should be excluded in children with phthiriasis palpebrarum and parents of amblyopic children on occlusion therapy should be warned about the importance of the hygiene of the patching in order to avoid any kind of infection and infestation