Article
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.
Acta ophthalmologica - 1 Feb 2015
Fernandez-San Jose Patricia, Blanco-Kelly Fiona, Corton Marta, Trujillo-Tiebas Maria-Jose, Gimenez Ascension, Avila-Fernandez Almudena, Garcia-Sandoval Blanca, Lopez-Molina Maria-Isabel, Hernan Inma, Carballo Miguel, Riveiro-Alvarez Rosa, Ayuso Carmen
Abstract excerpt
PURPOSE: We aimed to determine the prevalence of mutations in the RHO gene in Spanish families with autosomal dominant Retinitis Pigmentosa (adRP), to assess genotype-phenotype correlations and to establish an accurate diagnostic algorithm after 23 years of data collection. PATIENTS AND METHODS: Two hundred patients were analysed through a combination of denaturing gradient gel electrophoresis, single-strand...
Topics
- Adult
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genotyping Techniques
- Humans
- Male
- Middle Aged
- Mutation
- Oligonucleotide Array Sequence Analysis
- Polymorphism, Single-Stranded Conformational
- Prevalence