A5000414199- Retinal Development and Disorders
- Connexins and lens biology
- Ocular Disorders and Treatments
- Retinal Diseases and Treatments
- RNA regulation and disease
- Reconstructive Facial Surgery Techniques
- Retinal and Macular Surgery
- Intraocular Surgery and Lenses
- Escherichia coli research studies
- Genetics and Neurodevelopmental Disorders
Universidade Federal de São Paulo
2023-2025
Hospital São Paulo
2024
To characterize the largest cohort of individuals with RDH12-retinal dystrophy to date, and first one from South America. Retrospective multicenter international study. 78 patients (66 families) an inherited retinal biallelic variants in RDH12. Review clinical notes, ophthalmic images, molecular diagnosis. Visual function, imaging characteristics were evaluated correlated. Thirty-seven self-identified as Latino (51%) 34 White (47%). Mean age at baseline visit was 19.8 ± 13 years old (6...
To describe the phenotype and genotype of 10 Brazilian patients with variants in
This study aimed to characterize retinitis pigmentosa associated with the eyes shut homolog gene, which causes hereditary retinal degeneration.
Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases retinal appearance of Stargardt disease phenotypes and unexpected molecular findings.This report reviewed medical records patients macular dystrophy clinical features disease. Ophthalmic examination, fundus imaging, next-generation sequencing were performed evaluate related phenotypes.Patients presented atrophy pigmentary changes suggesting The...
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. Pathogenic variants in six genes encoding proteins composing the phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) of unfolded protein response (ATF6) have been related to ACHM cases, while CNGA3 CNGB3 alone are responsible for most cases. Herein, we provide clinical molecular overview 42 Brazilian patients from 38...