Publications by authors named "Gabriela Dona Rodrigues"
RPGR-Related Retinal Dystrophy in Latin America-A Collaborative Study.
Am J Ophthalmol
September 2025
Purpose: To provide the first genetic and clinical characterization of RPGR-associated inherited retinal diseases (IRDs) in Latin America and assess their genetic, clinical, and socioeconomic landscape.
Design: Multicenter, international, retrospective, observational cohort study.
Methods: Patients with genetically confirmed RPGR-IRD from Brazil, Argentina, Chile, Mexico, Colombia, and Panama were included in this study.
Purpose: This study aimed to characterize retinitis pigmentosa associated with the eyes shut homolog gene, which causes hereditary retinal degeneration.
Methods: The anatomical and functional findings of retinitis pigmentosa in patients with variants of the eyes shut homolog gene were characterized and compared using multimodal imaging and genetic analysis of the variants. Clinical data such as visual acuity, lens status, and refraction were obtained from medical records.
Rheumatic fever and long-term use of benzathine penicillin as possible risk factors for extensive macular atrophy with pseudodrusen in a Brazilian cohort.
Int J Retina Vitreous
October 2024
Article Synopsis
- - The study investigated the correlation between rheumatic fever (RF) history and benzathine penicillin (BP) treatment with extensive macular atrophy with pseudodrusen (EMAP) in Brazilian patients through a retrospective, observational case-control approach.
- - Out of 77 patients (66.2% women, average age 58.6), a significant majority had a history of RF (90.9%) and BP treatment (94.8% starting at an average age of 7.3 years with an 11.8-year duration).
- - Results showed that longer BP treatment duration was linked to a decrease in atrophic area, while older age at RF diagnosis influenced the likelihood of subretinal dr
Schizophrenia and autism spectrum disorders (ASD) are psychiatric neurodevelopmental disorders that cause high levels of functional disabilities. Also, the currently available therapies for these disorders are limited. Therefore, the search for treatments that could be beneficial for the altered course of the neurodevelopment associated with these disorders is paramount.
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