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LncRNAs in genetic basis of glaucoma.

ABSTRACT: Glaucoma is an umbrella term used to designate a heterogeneous group of ocular disorders characterised by progressive excavation of the optic disc, optic atrophy and gradual loss of the visual field caused by the slow death of retinal ganglion cells and their axons. Glaucoma can potentially lead to blindness if left untreated. It usually starts from the periphery and progresses gradually toward the centre of the visual field. Vision loss caused by glaucoma is irreversible and causes a heavy burden on affected families and society, therefore the importance of early diagnosis and prevention should be emphasised. Genetic factors appear to play a role in glaucoma pathogenesis; it has been shown that individuals with a positive family history are at a greater risk because they are more likely predisposed be affected. Notable advances have been recorded in the past decade concerning the genetic and environmental factors likely to contribute or cause glaucoma with the discovery of multiple glaucoma-associated genes and genetic loci. Thorough investigations by a handful of studies on the function of long non-coding RNAs discovered that, although lacking protein-coding potential, lncRNAs can still participate in the regulation of gene expression at various levels, thus their possible implication in different disease aetiologies. In this review, we focus on the lncRNAs characteristics and its regulation, and summarise these results from separate, independent, glaucoma-related studies in addition to discussing possible pathways by which lncRNAs might contribute to glaucoma.

SUBMITTER: Cisse Y

PROVIDER: S-EPMC6020790 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:PurposeIt has been recognised that the 24-2 grid used for perimetry may poorly sample the macula, which has been recently identified as a critical region for diagnosing and managing patients with glaucoma. We compared data derived from patients and controls to investigate the efficacy of a basis for customising perimetric locations within the macula, guided by en face images of retinal nerve fibre layer (RNFL) bundles.MethodsWe used SD-OCT en face montages (www.heidelbergengineering.com) of the RNFL in 10 patients with glaucoma (ages 56-80 years, median 67.5 years) and 30 age-similar controls (ages 47-77, median 58). These patients were selected because of either the absence of perimetric defect while glaucomatous damage to the RNFL bundles was observed, or because of perimetric defect that did not reflect the extent and locations of the glaucomatous damage that appeared in the RNFL images. We used a customised blob stimulus for perimetric testing (a Gaussian blob with 0.25° standard deviation) at 10-2 grid locations, to assess the correspondence between perimetric defects and damaged RNFL bundles observed on en face images and perimetric defects. Data from the age-similar controls were used to compute total deviation (TD) and pattern deviation (PD) values at each location; a perimetric defect for a location was defined as a TD or PD value of -0.5 log unit or deeper. A McNemar's test was used to compare the proportions of locations with perimetric defects that fell outside the damaged RNFL bundles, with and without accounting for displacement of ganglion cell bodies.ResultsAll patients but one had perimetric defects that were consistent with the patterns of damaged RNFL bundles observed on the en face images. We found six abnormal perimetric locations of 2040 tested in controls and 132 abnormal perimetric locations of 680 tested in patients. The proportions of abnormal locations that fell outside the damaged RNFL bundles, with and without accounting for displacement of the ganglion cell bodies were 0.08 and 0.07, respectively. The difference between the two proportions did not reach statistical significance (p = 0.5 for a one-tailed test).ConclusionsWe demonstrated that it is effective to customise perimetric locations within the macula, guided by en face images of the RNFL bundles. The perimetric losses found with a 10-2 grid demonstrated similar patterns as the damaged RNFL bundles observed on the en face images.

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LncRNAs in genetic basis of glaucoma.

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