Familial ocular toxoplasmosis: Clinical and Genetic Characterization in two affected families

Ocular toxoplasmosis is an infectious disease with heterogeneous clinical manifestations, even among immunocompetent individuals, and represents a major cause of visual morbidity.
Several studies have shown that, in addition to environmental and parasitic factors, the host's immune response and genetic predisposition play a key role in the susceptibility, severity, and recurrence of the disease. However, the available evidence on familial aggregation and genetic determinants associated with ocular toxoplasmosis in the Colombian population is limited.
The objective of this study is to perform the clinical and immunogenetic characterization of two Colombian families with multiple members affected by ocular toxoplasmosis, in order to identify possible genetic variants associated with susceptibility and clinical expression of the disease. A prospective observational study of familial aggregation will be conducted, including six patients with a confirmed diagnosis of ocular toxoplasmosis, belonging to two independent families with proven biological kinship.
Clinical information will be obtained through a detailed review of medical records, including personal and family history, disease progression, characteristics of ocular lesions, and treatments received. In addition, peripheral blood samples will be taken for genetic analysis, aimed at identifying polymorphisms in genes related to the immune response previously associated with ocular toxoplasmosis.
The analyses will be performed using molecular biology and genomics methodologies, with a descriptive and interpretative approach. The results are expected to describe shared clinical patterns within family units and identify possible genetic variants associated with the disease, contributing to a better understanding of the immunogenetic mechanisms involved in ocular toxoplasmosis. It will also provide preliminary evidence relevant to the development of future studies in larger populations and the identification of risk biomarkers in clinical settings.

Ocular toxoplasmosis, visual morbidity, genetic variants

Submission to a Q1 indexed journal in immunology, infections, or genetics
Socialization in academic spaces (research groups or conferences)