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Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.
Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma
GAS7 and TMCO1 are highly expressed in the ciliary body and trabecular meshwork as well as in the lamina cribrosa, optic nerve, and retina, and both genes functionally interact with known glaucoma disease genes.
Common genetic variants associated with open-angle glaucoma.
Consistent evidence is found for three common variants (CDKN2B, ATOH7 and SIX1) significantly associated with glaucoma that may shed new light on the pathophysiological protein pathways leading to glau coma, and point to pathways involved in the growth and development of the optic nerve.
Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
- F. Pasutto, M. Krumbiegel, A. Reis
- Medicine, BiologyInvestigative ophthalmology & visual science
- 1 April 2008
Genetic variants in LOXL1 confer risk to PEX in German and Italian populations, independent of the presence of secondary glaucoma, confirming findings in patients from Northern Europe.
Retinal Nerve Fiber Layer Thickness in Normals Measured by Spectral Domain OCT
Normal RNFL results with SOCT are comparable to those reported with time-domain OCT, and in accordance with the literature on other devices, RNFL thickness measured with SoCT was significantly correlated with age and axial length.
Comparison of Bruch's Membrane Opening Minimum Rim Width and Peripapillary Retinal Nerve Fiber Layer Thickness in Early Glaucoma Assessment.
- Jonas M D Gmeiner, W. Schrems, C. Mardin, R. Laemmer, F. Kruse, L. Schrems-Hoesl
- MedicineInvestigative ophthalmology & visual science
- 1 July 2016
Bruch's membrane opening-MRW and RNFLT are comparably useful parameters for discrimination of preperimetric and perimetric glaucomatous eyes and show potential to assist each other inglaucoma diagnosis.
Profiling of WDR36 missense variants in German patients with glaucoma.
The occurrence of several rare putative disease-causing variants in patients with glaucoma suggests that WDR36 may be a minor disease- Causing gene in glau coma, at least in the German population.
Variants in ASB10 are associated with open-angle glaucoma.
Evidence is provided for ASB10 as a glaucoma-causing gene through genetic and molecular analyses that affect an exon splice enhancer site and alters mRNA splicing in lymphoblasts of affected family members.
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome
- M. Krumbiegel, F. Pasutto, A. Reis
- Biology, MedicineEuropean Journal of Human Genetics
- 1 February 2011
Evidence for association of CNTNAP2 with PEX syndrome and PEXG in German patients is shown, confirming efficiency of GWAS with DNA-pooling approach by detection of the known LOXL1 locus.
Wavelet denoising of multiframe optical coherence tomography data
- M. Mayer, A. Borsdorf, M. Wagner, J. Hornegger, C. Mardin, R. Tornow
- Computer ScienceBiomedical optics express
- 22 February 2012
A novel speckle noise reduction algorithm for OCT images that uses wavelet decompositions of the single frames for a local noise and structure estimation and observes only a minor sharpness decrease at a signal-to-noise gain.