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Population-based evaluation of retinal nerve fiber layer, retinal ganglion cell layer, and inner plexiform layer as a diagnostic tool for glaucoma.
Invest Ophthalmol Vis Sci. 2014 Nov 20;
Authors: Springelkamp H, Lee K, Wolfs RC, Buitendijk GH, Ramdas WD, Hofman A, Vingerling JR, Klaver CC, Abràmoff MD, Jansonius NM
Purpose: To determine the glaucoma screening performance of regional OCT layer thickness measurements in the peripapillary and macular region, in a population-based setting. Methods: Subjects (n=1,224) in the Rotterdam Study underwent visual field testing (Humphrey Field Analyzer) and OCT of macula and optic nerve head (Topcon 3-D OCT-1000). We determined the mean thicknesses of the RNFL, retinal ganglion cell layer (RGCL), and inner plexiform layer for regions-of-interest, thus defining a series of OCT parameters, using the Iowa Reference Algorithms. Reference standard was the presence of glaucomatous visual field loss (GVFL); controls were subjects without GVFL, an IOP of 21 mmHg or less, and no positive family history for glaucoma. We calculated the area under the receiver operating characteristics curve (AUCs) and the sensitivity at 97.5% specificity for each parameter. Results: After excluding 23 subjects with an IOP >21 mmHg and 73 subjects with a positive family history for glaucoma, there were 1,087 controls and 41 glaucoma cases. Mean RGCL thickness in the inferior half of the macular region showed the highest AUC (0.85; 95% confidence interval 0.77-0.92) and sensitivity (53.7%; 38.7-68.0%). The mean thickness of the peripapillary RNFL had an AUC of 0.77 (0.69-0.85) and a sensitivity of 24.4% (13.7-39.5%). Conclusions: Macular RGCL loss is at least as common as peripapillary RNFL abnormalities in population-based glaucoma cases. OCT based screening for glaucoma identifies about half of those cases of glaucoma diagnosed by perimetry.
PMID: 25414193 [PubMed - as supplied by publisher]
DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma.
Authors: Liu Y, Garrett ME, Yaspan BL, Cooke Bailey JN, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kang JH, Lee RK, Lichter PR, Moroi SE, Realini T, Richards J, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb RN, Wollstein G, Zack DJ, Zhang K, Pericak-Vance M, Haines JL, Pasquale LR, Wiggs JL, Allingham RR, Ashley-Koch A, Hauser MA
Purpose: To examine the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG). Methods: Our study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with the Illumina Human660W_Quad_v1 BeadChip. After removing non-blood derived and amplified DNA samples, we applied quality control steps based on the mean Log R Ratio and the mean B allele frequency. Subsequently, data from 3057 DNA samples (1599 cases and 1458 controls) were analyzed with PennCNV software. We defined CNVs as those ≥ 5kb in size and interrogated by ≥ 5 consecutive probes. We further limited our investigation to CNVs in known POAG-related genes, including CDKN2B-AS1, TMCO1, SIX1/SIX6, CAV1/CAV2, the LRP12-ZFPM2 region, GAS7, ATOH7, FNDC3B, CYP1B1, MYOC, OPTN, WDR36, SRBD1, TBK1, and GALC. Results: Genomic duplications of CDKN2B-AS1 and TMCO1 were each found in a single case. Two cases carried duplications in the GAS7 region. Genomic deletions of SIX6 and ATOH7 were each identified in one case. One case carried a TBK1 deletion and another case carried aTBK1 duplication. No controls had duplications or deletions in these six genes. A single control had a duplication in the MYOC region. Deletions of GALC were observed in five cases and two controls. Conclusions: CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.
PMID: 25414181 [PubMed - as supplied by publisher]