Burak Acar

Expanding the clinical spectrum of recessive CRX-associated retinal disease: an early-onset retinal dystrophy phenotype

To characterize the clinical and genetic findings in three affected siblings from a consanguineous family with a novel homozygous CRX variant and an early-onset retinal dystrophy (EORD) phenotype, and to review previously reported cases of recessive CRX -associated retinal disorders. Comprehensiv...