Keratoconus investigations: biomarkers for diagnosis study of the genetic basis of patients with a clinical diagnosis of keratoconus using a next-generation sequencing approach

• Grant number: 23/03711-7
• Support Opportunities: Regular Research Grants
• Start date: September 01, 2023
• End date: August 31, 2025
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Rosália Maria Simões AntunesFoschini
• Grantee: Rosália Maria Simões AntunesFoschini
• Host Institution: Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da USP (HCMRP). Secretaria da Saúde (São Paulo - Estado). Ribeirão Preto , SP, Brazil
• Associated researchers: João Paulo Bianchi Ximenez ; Wilson Araújo da Silva Junior

Abstract

The improvement in the diagnostic exams and the therapeutic possibilities for keratoconus attracted attention to problems not yet clarified in this disease. The present study aims to evaluate the genetic profile of patients with keratoconus, as well as their association with clinical features, from a panel of genes previously described as associated with keratoconus, and, later, by the analysis of the exome of the patients without pathogenic variants in the genes arranged on the panel. (AU)