Kathy Miller

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Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG) occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN) and TANK binding kinase 1 (TBK1), cause familial NTG and have known roles in the catabolic cellular process autophagy. TKB1 encodes a kinase(More)
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Molecular genetics of optic nerve disease using patients with cavitary optic disc anomaly." PhD ii To my mother Queen Marion, thank you for always being there; may you continue to rest in peace and to my son Ralph J. Hazlewood III iii Without struggle, there is no progress. Frederick Douglas " West India Emancipation " iv ACKNOWLEDGEMENTS The journey to(More)
We have developed a publicly available tool, AxonJ, which quantifies the axons in optic nerve sections of rodents stained with paraphenylenediamine (PPD). In this study, we compare AxonJ's performance to human experts on 100x and 40x images of optic nerve sections obtained from multiple strains of mice, including mice with defects relevant to glaucoma.(More)
PURPOSE The defining feature of glaucoma is excavation of the optic nerve head; however, the mechanism of this loss of tissue is not well understood. We recently discovered a copy number variation upstream of matrix metalloproteinase 19 (MMP19) in a large, autosomal dominant pedigree with a congenital malformation of the optic disc called cavitary optic(More)
PURPOSE Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder displaying variable expression of multiple congenital anomalies including hypoplasia or aplasia of the lacrimal and salivary systems causing abnormal tearing and dry mouth. Mutations in the FGF10, FGFR2, and FGFR3 genes were found to cause some cases of LADD syndrome in(More)
In the Supplementary Information file originally published with this Article, Supplemental Figure 1 was omitted. In addition, " Supplemental Software " was incorrectly given as " Software Legend " These errors have now been corrected in the Supplementary Information that now accompanies the Article. This work is licensed under a Creative Commons Attribution(More)
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