2025-03-122025-03-122024-11-13AZEVEDO, Lorrana de Souza. Caracterização morfológica e funcional da retina e identificação de genes relacionados a perdas visuais de pacientes com retinose pigmentar em uma clínica particular de referência no estado do Pará. Orientador: Givago da Silva Souza. 2024. 91 f. Trabalho de Curso (Bacharelado em Medicina) - Faculdade de Medicina, Instituto de Ciências Médicas, Universidade Federal do Pará, Belém, 2024. Disponível em: https://bdm.ufpa.br/jspui/handle/prefix/7826. Acesso em:.https://bdm.ufpa.br/jspui/handle/prefix/7826Introduction: Among the hereditary retinal dystrophies, retinitis pigmentosa (RP) is the most common. Evaluation of the retina of patients with RP can be carried out using various diagnostic tools, including optical coherence tomography, full-field electroretinogram and total-field electroretinogram. Objective: To evaluate the association between genes related to visual loss and the functional and morphological characterization of patients with retinitis pigmentosa at a private referral clinic in the state of Pará. Materials and Methods: We recruited 20 patients with a diagnosis of retinitis pigmentosa, who underwent genetic analysis, full-field electroretinogram, full-field electroretinogram and optical coherence tomography. The association between the expression of pathogenic genes and the results of electrophysiological and retinal imaging tests was assessed using linear discriminant analysis. Results: When the scotopic ERG and OCT characteristics were used, there was no overlap between the ellipses delimiting the data from participants expressing pathogenic genes and participants not expressing pathogenic genes. It was observed that there was overlap between the ellipses delimiting the data from each group of patients with the photopic ERG and mfERG exams. Discussion: Electrophysiological and retinal imaging methods may be of clinical importance for assessing and monitoring residual central retinal function and the remaining small central visual fields in patients with retinitis pigmentosa. Conclusion: This study provided an in-depth analysis of retinitis pigmentosa in patients from the state of Pará, highlighting the importance of genetic research, electrophysiological tests and retinal imaging in understanding and diagnosing this eye disease.Acesso AbertoDoenças oftalmológicasDistrofias hereditárias da retinaRetinose pigmentar (RP)GenesOphthalmic diseasesHereditary retinal dystrophiesRetinitis pigmentosa (RP)CNPQ::CIENCIAS MEDICAS::MEDICINATrabalho de Curso - Graduação - Monografia