Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas
Condition: Keratoconus; Keratoconus, Unspecified, Bilateral
MeSH terms: Keratoconus
Study type: Interventional

Summary: 
      Evaluation of tomographic (Pentacam) parameters and genetic parameters of Visual System
      Homeobox 1 (VSX1), Superoxide Dismutase (SOD1), Tissue Inhibitors of Metalloproteinases
      (TIMP3) genes of keratoconus patients diagnosed by clinical exam and topographic pattern.
      Basically we are screening patients that don't have keratoconus that those have keratoconus.
      The pentacam index of corneal curvature, thinnest point, corneal high order aberrations,
      posterior and anterior elevation, corneal densitometry, corneal volume were investigated. To
      analyze the genes, we took corneal epithelium samples of patients submitted to cross linking
      compared to (PRK) Photo Refractive Keratectomy ones. Also will be evaluated the genes of
      peripheral blood.
    

Detailed description: 
      Keratoconus is a common disease that affects the cornea in both genders in all ethnic groups
      and that can manifest unilaterally or bilaterally in patients. Keratoconus due to a
      degenerative disease, its progression can be fast in various situations, affecting 1 in every
      2,000 people, what results in severe structural changes of the cornea, which reduces its
      thickness and modify its normal curvature to a more conical shape. Keratoconus arises in
      adolescence and lasts for thirty to forty years of age, where it stabilizes and it is
      considered a major cause of corneal transplantation. Factors such as atopy, overuse of
      contact lenses and the act of rubbing the eyes are also related to the disease. The clinical
      picture consists of a lot of varied symptoms and it depends on the stage of disease
      progression. Currently it is known that genetic and environmental factors are involved in the
      desease emergence. Recently several genetic studies have aimed to identify mutations in genes
      which are directly linked to Keratoconus, such as VSX1, SOD1 and TIMP3 genes. However,
      despite the efforts directed towards the understanding of the genetic aspects of this
      disease, involving many genes, there are still many questions about the role of these genes
      in Keratoconus etiology. Thus, the present study aims to identify the presence of mutations
      in VSX1, SOD1 and TIMP3 genes, which are considered important candidates for the origin and
      development of this eye anomaly, through the analysis of their nucleotide sequences in
      corneal tissue and peripheral blood in Keratoconus patients, in their unilateral and
      bilateral forms. The results will allow to compare the presented mutations in different
      analysed tissues for unilateral and bilateral forms of Keratoconus and also compare them with
      the same tissues in healthy patients, in an attempt to establish what the likely inherited
      and/or acquired genetic mutations are causing this condition. Thus providing genetic data,
      still unpublished in Brazilian populations, which may offer subsidies for the
      characterization of the mutation dynamics and their patterns, on the origin and development
      of Keratoconus. Also will be evaluated the tomographic index as corneal curvature, thinnest
      point, corneal high order aberrations, posterior and anterior elevation, corneal
      densitometry, corneal volume. The idea is focused on that suspicious cornea that has the
      fellow eye with unequivocal keratoconus.
    

Intervention name(s): EVALUATION OF VSX1, SOD1, and TIMP3 genes
Intervention type(s): Other
Intervention description(s): Evaluation of VISX1, SOD1, TIMP3 genes in corneal epithelium, and in peripheral blood. Evaluation of pentacam parameters
Other intervention name(s): pentacam and gene evaluation
Intervention MeSH terms: Tissue Inhibitor of Metalloproteinase-3
Allocation: Non-Randomized
Intervention model: Parallel Assignment
Masking: None (Open Label)
Primary purpose: Screening
Keywords: Keratoconus,Corneal Dystrophies, corneal Tomography, topography