Análise multimodal em pacientes com Retinose Pigmentária relacionada ao gene EYS
Data
2022
Autores
Pereira, Mariana Costa 
Martins, Ester Abigail da Silva
Ivama, Kendy Junior
Orientadores
Sallum, Juliana Maria Ferraz
Tipo
Trabalho de conclusão de curso
Título da Revista
ISSN da Revista
Título de Volume
Resumo
Objetivo: A Retinose Pigmentária (RP) é uma doença que causa degeneração da retina, mais precisamente dos fotorreceptores, sendo de causa, principalmente, genética. Portanto, o objetivo deste trabalho foi compreender a história natural da RP relacionada ao gene EYS, caracterizando e comparando os achados anatômicos e funcionais detectados nos exames, observando o comportamento da doença em indivíduos de diferentes idades, por meio de análise multimodal. Métodos: Foram incluídos 22 pacientes diagnosticados com RP relacionada ao gene EYS. Foram realizados os exames de Perimetria Estática, Microperimetria (MP), Autofluorescência de Fundo (AF), Tomografia de Coerência Óptica (OCT) e Retinografia. Dados como acuidade visual, status do cristalino e teste molecular foram obtidos de forma retrospectiva. Resultados: 68% eram do sexo feminino e a idade era entre 18 e 64 anos. A acuidade visual (média ± desvio padrão) foi de 0,62 ± 0,50 logMAR. 57% dos participantes apresentaram campo visual de padrão tubular. Na MP o Average Threshold (média ± desvio padrão) foi de 14,66 ± 9,62 dB. No exame de OCT, a espessura da retina central (média ± desvio padrão) foi de 246,60 ± 59,16 μm, 50% apresentaram cistos/edema macular cistóide, 23% membrana epirretiniana e 55% desorganização da zona elipsóide. Na AF a área preservada da retina estimada (média ± desvio padrão) foi de 36,13 ± 21,33 mm2, 85% apresentou hipo-AF na região macular, 70% anel de hiper-AF e 90% pigmentos periféricos hipo-AF. Conclusões: Nesta coorte de doença rara, foi possível compreender a Retinose Pigmentária relacionada ao gene EYS. Observa-se nos exames realizados, características clínicas da doença que se repetem entre os pacientes de maneira padronizada, também é notável que a progressão da doença é proporcional ao aumento da idade.
Objective: Retinitis Pigmentosa (RP) is a disease that causes degeneration of the retina, more precisely of the photoreceptors, and is mainly genetic. Therefore, the objective of this study was to understand the natural history of RP related to the EYS gene, characterizing and comparing the anatomical and functional findings detected in the exams, observing the behavior of the disease in individuals of different ages, through multimodal analysis. Methods: Twenty-two patients diagnosed with RP related to the EYS gene were included. Static Perimetry, Microperimetry (MP), Fundus Autofluorescence (FAF), Optical Coherence Tomography (OCT) and Fundus Photography tests were performed. Data such as visual acuity, lens status and molecular testing were obtained retrospectively. Results: 68% were female and the age was between 18 and 64 years. Visual acuity (mean ± standard deviation) was 0.62 ± 0.50 logMAR. 57% of participants had a tubular pattern visual field. In MP, the Average Threshold (mean ± standard deviation) was 14.66 ± 9.62 dB. On OCT examination, the thickness of the central retina (mean ± standard deviation) was 246.60 ± 59.16 μm, 50% had cysts/cystoid macular edema, 23% epiretinal membrane and 55% ellipsoid zone disorganization. In the FAF, the preserved retinal area estimated (mean ± standard deviation) was 36.13 ± 21.33 mm2, 85% had hypo- FAF in the macular region, 70% hyper-FAF ring and 90% hypo-FAF peripheral pigments. Conclusions: In this rare disease cohort, it was possible to understand Retinitis Pigmentosa related to the EYS gene. It is observed in the tests carried out, clinical characteristics of the disease that are repeated among patients in a standardized way, it is also remarkable that the progression of the disease is proportional to the increase in age.
Objective: Retinitis Pigmentosa (RP) is a disease that causes degeneration of the retina, more precisely of the photoreceptors, and is mainly genetic. Therefore, the objective of this study was to understand the natural history of RP related to the EYS gene, characterizing and comparing the anatomical and functional findings detected in the exams, observing the behavior of the disease in individuals of different ages, through multimodal analysis. Methods: Twenty-two patients diagnosed with RP related to the EYS gene were included. Static Perimetry, Microperimetry (MP), Fundus Autofluorescence (FAF), Optical Coherence Tomography (OCT) and Fundus Photography tests were performed. Data such as visual acuity, lens status and molecular testing were obtained retrospectively. Results: 68% were female and the age was between 18 and 64 years. Visual acuity (mean ± standard deviation) was 0.62 ± 0.50 logMAR. 57% of participants had a tubular pattern visual field. In MP, the Average Threshold (mean ± standard deviation) was 14.66 ± 9.62 dB. On OCT examination, the thickness of the central retina (mean ± standard deviation) was 246.60 ± 59.16 μm, 50% had cysts/cystoid macular edema, 23% epiretinal membrane and 55% ellipsoid zone disorganization. In the FAF, the preserved retinal area estimated (mean ± standard deviation) was 36.13 ± 21.33 mm2, 85% had hypo- FAF in the macular region, 70% hyper-FAF ring and 90% hypo-FAF peripheral pigments. Conclusions: In this rare disease cohort, it was possible to understand Retinitis Pigmentosa related to the EYS gene. It is observed in the tests carried out, clinical characteristics of the disease that are repeated among patients in a standardized way, it is also remarkable that the progression of the disease is proportional to the increase in age.