Biomarkers in ocular diseases

Abstract

Keratoconus is a common disease that affects the cornea, affecting both genders in all ethnic groups and which can manifest unilaterally or bilaterally in patients. Because it is a degenerative disease, its progression can be fast in various situations and affects 1 in every 2,000 people, resulting in severe structural changes in the cornea, which diminish their thickness and modify their normal curvature to a more conical shape. Keratoconus emerges in adolescence and lasts for thirty to forty years of age, where it stabilizes and is considered the leading cause of corneal transplant. Factors such as atopy, excessive contact lens use and the act of rubbing your eyes are also related to the disease. The clinical picture consists of varied symptoms and progression depend on the stage of the disease. New devices have been developed for the detection of clinical and subclinical keratoconus with the objective of "screening" in refractive surgery, especially those scanners which provide three-dimensional maps, anterior and posterior surfaces of the cornea, corneal thickness and characteristics of the anterior chamber. By Currently it is known that genetic and environmental factors are involved in this disease develops. Recently several genetic studies are aimed at identifying mutations in genes that are directly related to keratoconus, such as genes VSX1, SOD1 and TIMP3. However, despite the efforts directed to the understanding of the genetic aspects of the disease, involving several genes, there are still many questions about the role of these genes in the etiology of keratoconus. In the present study, we intend to identify the presence of mutations in genes VSX1, SOD1 and TIMP3, important candidates to the origin and development of this ocular abnormality, from the analysis of the nucleotide sequences thereof, in the corneal tissue affected and peripheral blood in patients with this pathology, in its forms unilateral and bilateral. The results allow to compare the mutations present in different tissues analyzed for unilateral and bilateral forms of keratoconus and also compare them with the same tissue in healthy patients, trying to establish what the likely inherited genetic mutations and / or acquired , causing this disease and provide genetic data, still unpublished in Brazilian populations, which can provide insight to the characterization of the dynamics of mutations and their patterns in the origin and development of keratoconus. (AU)