New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

ABSTRACT:

Importance

The families evaluated in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RAB28, a recently discovered gene associated with CRD.

Objective

To determine the disease-causing gene in 2 families of Spanish descent presenting with CRD who do not have ABCA4 mutations.

Design, setting, and participants

Molecular genetics and observational case studies of 2 families, each with 1 affected proband with CRD and 3 or 5 unaffected family members. The affected individual from each family received a complete ophthalmic examination including assessment of refractive errors and best-corrected visual acuity, biomicroscopy, color fundus photography, electroretinography analysis, and visual-evoked potential analysis. After comple

SUBMITTER: Riveiro-Alvarez R 

PROVIDER: S-EPMC4351871 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature