11 research outputs found

    The Assessment of Anterior and Posterior Ocular Structures in Hyperopic Anisometropic Amblyopia

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    Background: The aim of this study was to examine the relationship or differences in ocular structures of amblyopic eyes compared to fellow eyes in children and young adults with hyperopic anisometropic amblyopia

    Accelerated corneal crosslinking for treatment of progressive keratoconus in pediatric patients

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    Purpose: To evaluate the safety and efficacy of accelerated corneal crosslinking (CXL) in patients with progressive keratoconus aged 18 years or less

    The Investigation of HCV RNA in Tear Fluid and Aqueous Humor in Patients with Anti-HCV Antibody Positive Who Underwent Cataract Surgery

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    Purpose: To obtain aqueous humor and tear fluid samples during cataract surgery of the hepatitis C virus (HCV)-antibody-positive patients in order to analyze them for HCV RNA and compare these measurements with serum HCV RNA levels

    The Impact of Migraine on Posterior Ocular Structures

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    Purpose. To investigate the thickness of the retinal nerve fiber layer (RNFL) and choroid in patients who have migraines in comparison to healthy controls. Methods. This study included 76 eyes and patients in the migraine group, 36 with aura (MWA group) and 40 without (MWoA group), and 38 eyes as control subjects. The RNFL and macular thicknesses were analysed with standardOCT protocolwhile choroidal thicknesswas analysed with EDI protocol in all subjects. Choroidal thicknesswas measured at the fovea, 1500 rho m nasal and 1500 mu m temporal to the fovea in a horizontal section. Results. The mean RNFL thickness for nasal and nasal inferior sectors was significantly thinner (P <= 0.018) in themigraineurs' eyes than in those of the controls, as was the mean choroid thickness at the fovea and measured points (P < 0.0001). However, themeanmacular thickness was not significantly different between the groups. Conclusions. This study suggests that migraine leads to a reduction in the peripapillary RNFL thickness and to thinning in choroidal structures. These findings can be explained by a chronic ischemic insult related to migraine pathogenic mechanisms and these findings are considered supportive of the relationship between glaucoma and migraine

    Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome:Case report and literature review

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    Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients' ocular manifestations to provide a basis for future clinical trials and improve MSS patients' ophthalmologic care. Case description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2 years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet. Mendeliome sequencing unraveled a novel homozygous frameshift mutation in the SIL1 gene (SIL1, NM_022464.5, c.1042dupG, p.E348Gfs*4), causing MSS. A systematic literature review revealed that cataracts appear in 96% of MSS cases with a mean onset at 3.2 years. Additional frequent ocular features were strabismus (51.6%) and nystagmus (45.2%). Conclusion: SIL1-related MSS is associated with marked clinical variability. Cataracts can develop later than neuromuscular features and cognitive signs. Since cataract is a relatively late finding, patients may refer to ophthalmologists for other reasons such as refractive errors, strabismus, or nystagmus. Molecular genetic testing for SIL1 is essential to facilitate early diagnosis in patients with suspected MSS
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