Clin Med Insights Endocrinol Diabetes
September 2024
Purpose: The purpose of this study was to genotype two previously identified SNPs (rs1048661:R141L, and rs3825942:G153D) in the lysyl oxidase-like 1 (LOXL1) gene and determine their association with pseudoexfoliation glaucoma (XFG) in patients from Pune, India.
Methods: All subjects underwent detailed phenotyping, and DNA extraction was performed on blood samples by using standardized techniques. Exon 1 of the LOXL1 gene containing the SNPs (rs3825942:G153D; rs1048661:R141L) were Sanger sequenced, and the results were analyzed using sequence analysis software SeqScape 2.
Purpose: The aim of this study was to determine whether mutations in mitochondrial DNA play a role in high-pressure primary open-angle glaucoma (OMIM 137760) by analyzing new data from massively parallel sequencing of mitochondrial DNA.
Methods: Glaucoma patients with high-tension primary open-angle glaucoma and ethnically matched and age-matched control subjects without glaucoma were recruited. The entire human mitochondrial genome was amplified in two overlapping fragments by long-range polymerase chain reaction and used as a template for massively parallel sequencing on an Ion Torrent Personal Genome Machine.
Intraocular lens power (IOL) calculation for cataract surgery has been shown to be inaccurate after photorefractive keratectomy (PRK), laser-assisted subepithelial keratectomy (LASEK) and laser in situ keratomileusis (LASIK). Many techniques exist to calculate corneal power with varying results and require the clinician to be aware of the pitfalls of IOL power calculation in post-refractive eyes. The AS biometry method proposed here is a simple method which does not rely on the calculation of corneal power.
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