TGFB1 and LAMA1 gene polymorphisms in children with high myopia.

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.

The Prevalence and Characteristics of Charles Bonnet Syndrome in Turkish Patients with Retinal Disease.

PURPOSE: The aim of this study is to investigate the prevalence and clinical characteristics of Charles Bonnet syndrome (CBS) in a group of Turkish patients with various retinal diseases. METHODS: Two hundred and sixty-four patients with a best-corrected visual acuity of ≤20/40 in the better-seeing eye were asked with a standardized question whether they had symptoms of CBS. If they responded positively, a questionnaire was verbally administered to learn more about the details of the symptoms. RESULTS: There were 125 (47.3%) females and 139 (52.7%) males with a mean age of 72.1 years (range 31-90). Seventeen (6.4%) patients were diagnosed with CBS. Three (17.7%) patients had noncomplex hallucinations and 14 (82.3%) had complex hallucinations. CONCLUSION: CBS is not uncommon in visually impaired patients with retinal disease. Clinicians who care for visually impaired patients should be aware of CBS.

LOXL1 gene analysis in Turkish patients with exfoliation glaucoma.

The purpose of this study is to evaluate whole lysyl oxidase like 1 (LOXL1) gene by sequence analysis in Turkish patients with exfoliation glaucoma (XFG). A total of 48 (35 male, 13 female) patients with XFG were enrolled. Besides routine ophthalmological examination, peripapillary retinal nerve fibre layer (RNFL) analysis with optic coherence tomography was performed. Blood samples of 2 ml with EDTA were obtained and sent to Medical Genetics Department, Molecular Genetics Laboratory for LOXL1 polymorphism (PCR and agarose gel imaging) analysis. The role of the detected changes on disease severity was evaluated. No LOXL1 gene mutations in any of the patients were detected. Three types of single-nucleotide polymorphisms (SNPs) including R141L(rs1048661), A320A(rs41435250), and F184F were detected in 17 (35.3 %) patients. When compared, SNP-positive patients had thinner RNFL than SNP-negative patients (64.5 ± 17.6 and 66.1 ± 20.4 µ, respectively), and SNP-positive patients had higher cupping/disc ratio than SNP-negative patients (0.76 ± 0.2 and 0.70 ± 0.3, respectively). However, both values were not statistically significant (p = 0.966 and p = 0.539, respectively). When compared, R141L-positive patients had significantly thinner cornea thickness (516.11 ± 30.3 µ) than R141L-negative patients (556.69 ± 27.2 µ) (p = 0.004). There was not any statistical significant difference in the means of age, gender, BCVA, MD, PSD, IOP, number of hypotensive agents, and percent of glaucoma surgery (p > 0.05). In this study group of Turkish population, no LOXL1 mutations were found. No associations between the defined SNPs (A320A, R141L and F184F) and the severity of the disease were detected.

CHN1 gene mutation analysis in patients with Duane retraction syndrome.

PURPOSE: To investigate CHN1 (chimerin 1) gene mutations in patients with isolated nonsyndromic Duane syndrome and accompanying positive familial history, bilaterality, or various systemic disorders. METHODS: Patients with Duane retraction syndrome (DRS) and a positive family history of congenital ocular motility disturbance or bilateral involvement or accompanying any congenital disorder(s) seen consecutively at a single center from 2013 to 2016 were enrolled. All subjects underwent full ophthalmologic examination, including refraction, best-corrected visual acuity, ocular alignment and motility, globe retraction, and biomicroscopic or fundus evaluation. DNA samples were investigated by direct sequencing of the coding regions of the CHN1 gene. RESULTS: A total of 30 patients (15 males) were included (mean age, 11.8 ± 10.4 years; range, 2-45 years): 8 cases presented with bilateral DRS; 22, with unilateral DRS. Family history of ocular motility abnormality was positive in 16 patients. Eleven cases had an additional congenital disorder. In 2 patients, 2 different mutations were detected in the CHN1 gene: p.E313K (c.937G>A) and p.N224S (c.671A>G). CONCLUSIONS: CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. Additional genetic studies evaluating chimerin 1 (CHN1) and its role in the development of the ocular motor axis are needed to provide new data about these mutations and phenotypic variations.

The Role of Posterior Vitreous Detachment and Vitreomacular Adhesion in Patients With Age-Related Macular Degeneration.

BACKGROUND AND OBJECTIVE: The aim of this study was to assess the prevalence of posterior vitreous detachment (PVD) and vitreoretinal interface in patients with age-related macular degeneration (AMD). PATIENTS AND METHODS: This clinical trial included 206 eyes of 138 patients who presented to the authors' clinic between January 2012 and November 2014. Patients were divided into three groups: 98 eyes of 67 patients with exudative AMD, 55 eyes of 36 patients with nonexudative AMD, and 53 eyes of 35 patients having no vitreoretinal disease. All patients underwent complete ocular examination, including best-corrected visual acuity, Goldmann applanation tonometry, fundus photography, spectral-domain optical coherence tomography, and B-mode ultrasonography at 6 months and 12 months after the initial examination. RESULTS: Total and partial PVD rates were significantly higher at baseline, 6 months, and 12 months in both exudative and nonexudative AMD groups when compared to the control group (Chi-square test, P = .006, P = .001, and P = .009, respectively). The prevalence of total PVD was significantly higher in nonexudative AMD, whereas partial PVD was higher in exudative AMD. The exudative AMD group reported significantly more VMA than the other two groups at baseline, 6 months, and 12 months (Chi-square test, P =.005, P = .003, and P = .019, respectively). CONCLUSION: This study indicates that the incidence of vitreoretinal interface abnormalities such as partial PVD and vitreomacular adhesion were higher in the exudative AMD group. It can be concluded that abnormal adhesive and tractional forces due to PVD may play a role in the progression of AMD. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:223-229.].