M. F. Mulayim

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

The clinical spectrum of recessive CRX -associated retinal disease is expanded by identifying an EORD phenotype caused by a homozygous CRX variant, which underscores the functional importance of the homeobox domain and highlight the need for further studies to clarify genotype–phenotype correlations.