Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus
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The corneal epitheliumacts as a protective barrier on the anterior ocular surface and is essential for maintaining transparency of the cornea and thus visual acuity. During both homeostasis and repair, the corneal epithelium is maintained by self-renewing ...
Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of t ...
Background and Purpose: Transgenic mice over-expressing Notch2 in the uvea exhibit a hyperplastic ciliary body leading to increased IOP and glaucoma. The aim of this study was to investigate the possible presence of NOTCH2 variants in patients with primary ...
PURPOSE: To determine and compare the origin of the external surface reflections produced by commonly used intraocular lenses (IOLs). METHODS: The specular reflection taking place at the anterior surface of eight types of IOLs (IOL power = 22.00 diopters M ...
Chronic inflammation is associated with a variety of pathological conditions in epithelial tissues, including cancer, metaplasia and aberrant wound healing. In relation to this, a significant body of evidence suggests that aberration of epithelial stem and ...
Corneal integrity and transparency are indispensable for good vision. Cornea homeostasis is entirely dependent upon corneal stem cells, which are required for complex wound-healing processes that restore corneal integrity following epithelial damage. Here, ...
Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subje ...
Transplantation of donor cornea is widely performed with a high success rate to treat patients with impaired corneal transparency. However the limited number of donors has led scientists to search for new technologies and treatments, including stem cell th ...
Identifying multitarget impurities on contact lenses is challenging because traditional methods such as polymerase chain reaction cannot be used on the unknown target. Other sampling methods often require expensive antibodies or dyes. Therefore, this resea ...
Background. The impact of human genetic background on low-trauma fracture (LTF) risk has not been evaluated in the context of human immunodeficiency virus (HIV) and clinical LTF risk factors. Methods. In the general population, 6 common single-nucleotide p ...
