Mol Vis
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Telocytes (TCs) are peculiar interstitial cells, characterized by their typical elongated and interconnected processes called telopodes. TCs are supposed to contribute to maintain tissue homeostasis but also to be involved in the pathophysiology of many disorders. The aim of the study was to identify TCs in pterygium, a chronic condition of bulbar conjunctiva, and to examine possible differences in TCs in terms of immunophenotype and/or localization between pterygium and normal conjunctiva, to evaluate the possible involvement of TCs in pathogenesis of pterygium. ⋯ Because of the distribution and immunophenotype, TCs in pterygium may represent a subpopulation of relatively immature cells with regenerative potential. In addition, the expression of nestin may suggest possible involvement of TCs as active players in the regeneration of ultraviolet-damaged stroma and vascular remodeling. The fibrotic transformation in the cicatricial area may stand for a breakdown of the regenerative process.
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To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4. ⋯ The results indicate that this particular mutation in ABCA4 is associated with a severe retinal phenotype and thus, could be classified as null. Careful phenotyping of patients carrying specific mutations in ABCA4 is essential to enhance our understanding of disease expression linked to particular mutations and the resulting genotype-phenotype correlations.
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To assess retinal function in combination with the retinal structure in ABCA4-associated retinal degenerations. Moreover, to evaluate the possibility of predicting the natural course of these disorders. ⋯ The current study demonstrates a significant difference in total retinal function, as well as macular function, between patients with ABCA4-associated retinal degeneration and a different degree of visual field defects with gradual deterioration of function along with increased visual field constriction. Likewise, the morphological changes, including the deviant AF pattern and loss of IS/OS junctions, that were related to macular function measured with mERG worsened with the degree of visual field defects. Moreover, in these groups of patients with ABCA4-associated retinal degenerations, full-field cone 30 Hz flicker IT seems to be a predictor of the natural course of the disease also on long-term follow-up.
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Demographic, environmental, and genetic risk factors for age-related macular degeneration (AMD) have been identified; however, a substantial portion of the variance in AMD disease risk and heritability remains unexplained. To identify AMD risk variants and generate hypotheses for future studies, we performed whole exome sequencing for 75 individuals whose phenotype was not well predicted by their genotype at known risk loci. We hypothesized that these phenotypically extreme individuals were more likely to carry rare risk or protective variants with large effect sizes. ⋯ Identified variants and genes may highlight regions important in the pathogenesis of AMD and are key targets for replication.
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To estimate the population frequencies of all common mitochondrial variants and ancestral haplogroups among 1,999 subjects recruited for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study, including 1,217 primary open-angle glaucoma (POAG) cases and 782 controls, and to identify ancestral subpopulations and mitochondrial mutations as potential risk factors for POAG susceptibility. ⋯ These results implicate African mtDNA haplogroups L1c2, L1c2b, and L2 as risk factors for POAG. Approximately one in four African Americans have these mitochondrial ancestries, which may contribute to their elevated glaucoma risk. These haplogroups are defined in part by ancestral variants in the MT-RNR2 and/or MT-CO1 genes, several of which have prior disease associations, such as MT-CO1 missense variants that have been implicated in prostate cancer.