Luke A. Wiley

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PURPOSE To identify specific mutations causing North Carolina macular dystrophy (NCMD). DESIGN Whole-genome sequencing coupled with reverse transcription polymerase chain reaction (RT-PCR) analysis of gene expression in human retinal cells. PARTICIPANTS A total of 141 members of 12 families with NCMD and 261 unrelated control individuals. METHODS(More)
PURPOSE To determine whether loss of sympathetic innervation alters basement membrane thickness and pericyte loss. METHODS Sympathetic innervation to the eye was destroyed by surgical removal of the right superior cervical ganglion in rats. Basement membrane changes were assessed by real-time PCR and electron microscopy. The number of pericytes was(More)
Mutations in CEP290 are the most common cause of Leber congenital amaurosis (LCA), a severe inherited retinal degenerative disease for which there is currently no cure. Autosomal recessive CEP290-associated LCA is a good candidate for gene replacement therapy, and cells derived from affected individuals give researchers the ability to study human disease(More)
We previously found that lenses lacking the Acvr1 gene, which encodes a bone morphogenetic protein (BMP) receptor, had abnormal proliferation and cell death in epithelial and cortical fiber cells. We tested whether the tumor suppressor protein p53 (encoded by Trp53) affected this phenotype. Acvr1 conditional knockout (Acvr1(CKO)) mouse fiber cells had(More)
Retinitis pigmentosa (RP) is a highly heterogeneous group of disorders characterized by degeneration of the retinal photoreceptor cells and progressive loss of vision. While hundreds of mutations in more than 100 genes have been reported to cause RP, discovering the causative mutations in many patients remains a significant challenge. Exome sequencing in an(More)
The authors studied the distribution of specific keratins within the superior, inferior, medial, and lateral regions of human limbus and cornea to determine whether the limbal epithelium exhibits regional heterogeneity in its microstructure. A corneal epithelial basic keratin (K3), recognized by monoclonal antibody AE5, was immunohistochemically(More)
Vision is the sense that we use to navigate the world around us. Thus it is not surprising that blindness is one of people's most feared maladies. Heritable diseases of the retina, such as age-related macular degeneration and retinitis pigmentosa, are the leading cause of blindness in the developed world, collectively affecting as many as one-third of all(More)
Duplication of theTBK1 gene causes normal tension glaucoma (NTG); however the mechanism by which this copy number variation leads to retinal ganglion cell death is poorly understood. The ability to use skin-derived induced pluripotent stem cells (iPSCs) to investigate the function or dysfunction of a mutant gene product in inaccessible tissues such as the(More)
A new, direct, enzyme immunoassay test (Adenoclone, Cambridge BioScience, Hopkinton, MA) was evaluated for the rapid diagnosis of ocular adenovirus infections. In 36 culture-proven cases of adenovirus ocular infection, direct Adenoclone testing of conjunctival swabs was positive in 24 of 31 patients (77%) tested within 1 week of onset of symptoms, and in(More)
Endothelial cells (ECs) express fibroblast growth factor receptors (FGFRs) and are exquisitely sensitive to FGF signals. However, whether the EC or another vascular cell type requires FGF signaling during development, homeostasis, and response to injury is not known. Here, we show that Flk1-Cre or Tie2-Cre mediated deletion of FGFR1 and FGFR2(More)