A5046773374- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Connexins and lens biology
- Mitochondrial Function and Pathology
- Ocular Disorders and Treatments
- Advanced biosensing and bioanalysis techniques
- Biomedical Research and Pathophysiology
- Genetic Neurodegenerative Diseases
- Cellular transport and secretion
- Retinopathy of Prematurity Studies
- CRISPR and Genetic Engineering
- Lysosomal Storage Disorders Research
- Ophthalmology and Visual Impairment Studies
- Adenosine and Purinergic Signaling
- Ophthalmology and Eye Disorders
- Retinal and Macular Surgery
- Protist diversity and phylogeny
- Retinal and Optic Conditions
- Complement system in diseases
- melanin and skin pigmentation
- Birth, Development, and Health
- DNA Repair Mechanisms
- Autoimmune Neurological Disorders and Treatments
- Drug-Induced Ocular Toxicity
- Genetics and Neurodevelopmental Disorders
Universidade Federal de São Paulo
2014-2025
Fundação de Apoio à Universidade Federal de São Paulo
2016-2017
Among the Brazilian population, frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase knowledge about these in our we retrospectively studied medical records 1,246 patients with hereditary retinopathies during 20 years specialized outpatient clinic care. Of patients, 559 had undergone at least one genetic test. In this cohort, most prevalent were non-syndromic retinitis pigmentosa (35%), Stargardt disease (21%), Leber congenital amaurosis...
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many analyzed molecular diagnosis for inherited dystrophy. Crumbs homolog-1 protein encoded important cell-to-cell contact, polarization epithelial cells the morphogenesis photoreceptors. Pathogenic variants lead to a huge variety phenotypes ranging from milder forms dystrophy, such retinitis pigmentosa more severe...
Purpose: To analyze the presence of complex alleles ABCA4 gene in Brazilian patients with Stargardt disease and to assess correlation clinical features. Methods: This was an observational cross-sectional study. Patients a diagnosis who presented three pathogenic variants or had previously described as were included. The relatives these probands evaluated segregation analysis. based on age at symptom onset visual acuity, characteristics classified according findings observed autofluorescence...
Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype hereditary retinal dystrophy progressive loss peripheral field vision (Tunnel Vision), eventual central vision, night blindness. The characteristics fundus changes include bone-spicule formations, attenuated blood vessels, reduced and/or abnormal electroretinograms, in structure imaged optical coherence tomography,...
Abstract In the present study, we screened 529 Brazilian individuals affected by inherited retinal disorders. A total of seven unrelated and nonsyndromic patients with RP1 biallelic variants (OMIM # 180100) were diagnosed in our centre included study. They had classic retinitis pigmentosa diagnosis at first decade life. The visual acuities severely a young age. fundus aspects similar among all patients. An atrophic ring was around fovea several cases. All molecular diagnosis, six different...
Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly chorioretinopathy. In recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma complex-associated protein 4 (TUBGCP4) gene.Materials Methods This case report of patient with molecular diagnosis defined by mutations TUBGCP4 gene. Segregation analyses were carried out.Results The investigation...
Background: Although the pathogenicity of prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene.Purpose: The aim study was to evaluate PROM1 patients macular dystrophy.Material and methods: This retrospective evaluated detected by next-generation sequencing test dystrophy disease.Results: Of 25 medical records three were selected for study. p.Asp776Val p.Asp829Asn variants cases 1 2,...
The rare form of retinal dystrophy, Bietti crystalline is associated with variations in CYP4V2, a member the cytochrome P450 family. This study reports patients affected by typical and atypical expanding spectrum this disease. an observational case series clinical molecular diagnosis dystrophy that underwent multimodal imaging. Four unrelated are described two known variants, c.802-8_810del17insGC c.518T > G (p.Leu173Trp), one novel missense variant, c.1169G T (p.Arg390Leu). patient...
Purpose: Choroideremia is an inherited retinal degeneration caused by 280 different pathogenic variants in the CHM gene. Only one silent/synonymous variant (c.1359C>T; p.(Ser453=)) has been reported and was classified as inconclusive based on silico analysis. This study elucidates pathogenicity of this also found a Brazilian patient. Methods: Ophthalmological examinations such color fundus photography, spectral-domain optical coherence tomography, autofluorescence, macular integrity...
ABSTRACT Missing heritability in human diseases represents a major challenge. Although whole-genome sequencing enables the analysis of coding and non-coding sequences, substantial costs data storage requirements hamper its large-scale use to (re)sequence genes genetically unsolved cases. The ABCA4 gene implicated Stargardt disease (STGD1) has been studied extensively for 22 years, but thousands cases remained unsolved. Therefore, single molecule molecular inversion probes were designed that...
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...