Correlation between phenotype and genotype in patients with Stargardt's disease

• Grant number: 12/50454-5
• Support Opportunities: Regular Research Grants
• Start date: February 01, 2013
• End date: July 31, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Juliana Maria Ferraz Sallum
• Grantee: Juliana Maria Ferraz Sallum
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

The retinal dystrophy is a degenerative disease in which genetic variation leads tostructural damage and / or function of the retina resulting in decreased central vision and / or peripheral affected patients. Stargardfs disease typically presents the impairment of central vision, but in some cases may impair the vision of a diffuse and more severe. Since the first descriptions of this disease, the diagnosis of patients have been based on phenotypic characteristics. With the possibility of genetic sequencing and has already identified the genes responsible for this disease, currently the diagnosis of patients may be genetically confirmed. Genes have been identified as responsible for this disease are the ABCA4 gene with autosomal recessive trait, and ELOVL4 genes PROM1 manifested in an autosomal dominant gene and CNBG3, also related to cases of achromatopsia. The possibility of gene therapy and looking for mapping these mutations, this study wants to identify genetic mutations in patients with clinical diagnosis of Stargardt disease and correlate with its phenotypic manifestation. This research has as a method to select 20 patients with clinical diagnosis of Stargardt disease, which will be submitted to complete eye examination and have their 4ml peripheral blood collected for DNA analysis. With the results of genetic mapping and finding his relationship with the phenotypic completed, patients receive genetic counseling from a geneticist and so can better understand their disease. This information may in future help in programming such patients. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

SALLES, MARIANA VALLIM; MOTTA, FABIANA LOUISE; DA SILVA, ELTON DIAS; VARELA, PATRICIA; COSTA, KARITA ANTUNES; FILIPPELLI-SILVA, RAFAEL; MARTIN, RENAN PAULO; CHIANG, JOHN (PEI-WEN); PESQUERO, JOAO BOSCO; FERRAZ SALLUM, JULIANA MARIA. Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, v. 58, n. 13, p. 5715-5722, NOV 2017. (12/50454-5)

SALLES, MARIANA VALLIM; MOTTA, FABIANA LOUISE; MARTIN, RENAN; FILIPPELLI-SILVA, RAFAEL; DA SILVA, ELTON DIAS; VARELA, PATRICIA; COSTA, KARITA ANTUNES; CHIANG, JOHN PEIWEN; PESQUERO, JOAO BOSCO; SALLUM, JULIANA-MARIA FERRAZ. Variants in the ABCA4 gene in a Brazilian population with Stargardt disease. MOLECULAR VISION, v. 24, p. 546-559, AUG 1 2018. (12/50454-5)