The Phenotype of Early-Onset Retinal Degeneration in Persons with RDH12 Mutations

To describe the retinal dystrophy phenotype associated with mutations in RDH12, the gene encoding a retinoid dehydrogenase/reductase expressed in the photoreceptor cells. Sixteen persons from 12 families with pathogenic RDH12 mutations on both alleles were studied. Retinal phenotypes were characteri...

Ausführliche Beschreibung