Dysfunction of Calcyphosine-Like Gene Impairs Retinal Angiogenesis through the MYC Axis and Is Associated with Familial Exudative Vitreoretinopathy

Researchers reported two heterozygous variants in calcyphosine-like gene (CAPSL) that was associated with familial exudative vitreoretinopathy. Both variants exhibited compromised CAPSL protein expression.