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2003-15: Congenital blindness, retinitis pigmentosa and cone-rod dystrophy: Identification of molecular causes and genotype-phenotype correlation.

Medical retina
Molecular biology
Investigator Initiated Research
Inclusion open since 1-6-2003

Congenital blindness (LCA), retinitis pigmentosa (RP) and cone-rod dystrophy (CRD) are clinically and genetically heterogeneous disorders. In recent years, seven genes that are involved in LCA, 32 genes involved in RP and eight genes that are involved in CRD have been detected. It is estimated that at least 50% of the genes involved in these diseases have not been identified. In this research, we aim to identify new genes involved in LCA, RP and CRD with a new genome-wide approach that is currently being developed. Patients with mutations in a new gene, or in previously identified genes, are clinically characterized for a genotype-phenotype correlation. In addition, a family with a dominant form of RP (RP-PPRPE) will be analyzed for mutations in the CRB1 gene. When this gene is excluded, the underlying genetic defect will be examined with a genome-wide linkage scan.

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