CRX retinopathy

Official Title

Phenotype and genotype characteristics of CRX retinopathy

Study Details

The purpose of the research study is to better understand the wide spectrum of disease presentation, or "phenotype” in individuals with CRX-associated retinopathies of all four types (cone-rod dystrophy, macular dystrophy, Leber Congenital Amaurosis, and retinitis pigmentosa).

Principal Investigator

Dr. Shiming Chen

IRB Number



This study seeks families with inherited retinal dystrophies who have been told in the past that they have a segregating CRX mutation. Family members can include parents and siblings.

Volunteer Information

For more information about this study, contact Volunteer for Health at: