Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.

Gerardo Pedro García-GarcíaMagdalena Martínez-RubioMedina-Azahara Moya-MoyaJuan José Pérez-SantonjaJulio Escribano

Published in: Acta ophthalmologica (2018)

To the best of our knowledge, this study represents the largest effort to determine the genetic alterations underlying BCD in Spain to date. Our results show that analysis of CYP4V2 variants is required for a reliable diagnosis of BCD. We report a high prevalence of anterior segment changes in this Spanish BCD cohort, which we consider representative of the Spanish patients.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
healthcare
gene expression
patient reported
ionic liquid