The mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic single nucleotide polymorphism (SNP) haplotypes associated with the mutations and compared these with haplotypes of other populations. Finally, the frequency distribution of the haplotypes was compared among primary congenital glaucoma patients with and without CYP1B1 mutations and normal controls. Genotype classification of six high-frequency SNPs was performed using the PHASE 2.0 software. CYP1B1 mutations in the Iranian patients were very heterogeneous. Nineteen nonconservative mutations associated with disease, and 10 variations not associated with disease were identified. Ten mutations and three variations not associated with disease were novel. The 13 novel variations make a notable contribution to the ϳ70 known variations in the gene. CYP1B1 mutations were identified in 70% of the patients. The four most common mutations were G61E, R368H, R390H, and R469W, which together constituted 76.2% of the CYP1B1 mutated alleles found. Six unique core SNP haplotypes were identified, four of which were common to the patients with and without CYP1B1 mutations and controls studied.
Presbyopia is the primary cause of reduction in the quality of life of people in their 40s, due to dependence on spectacles. Therefore, presbyopia correction has become an evolving and rapidly progressive field in refractive surgery. There are two primary options for presbyopia correction: the dynamic approach uses the residual accommodative capacity of the eye, and the static approach attempts to enhance the depth of focus of the optical system. The dynamic approach attempts to reverse suspected pathophysiologic changes. Dynamic approaches such as accommodative intraocular lenses (IOLs), scleral expansion techniques, refilling, and photodisruption of the crystalline lens have attracted less clinical interest due to inconsistent results and the complexity of the techniques. We have reviewed the most popular static techniques in presbyopia surgery, including multifocal IOLs, PresbyLASIK, and corneal inlays, but we should emphasize that these techniques are very different from the physiologic status of an untouched eye. A systematic PubMed search for the keywords “presbylasik”, “multifocal IOL”, and “presbyopic corneal inlay” revealed 634 articles; 124 were controlled clinical trials, 95 were published in the previous 10 years, and 78 were English with available full text. We reviewed the abstracts and rejected the unrelated articles; other references were included as needed. This narrative review compares different treatments according to available information on the optical basis of each treatment modality, including the clinical outcomes such as near, intermediate, and far visual acuity, spectacles independence, quality of vision, and dysphotopic phenomena.
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