Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.

A novel missense variant existing in a compound heterozygous state was identified. Biallelic CRB1 mutations can cause anatomical fovea disruption similar to XLRS but have very different electroretinogram findings. This case report enhances our understanding of the spectrum of biallelic CRB1 mutations.