Ocular manifestations of syndromic and ocular-only phenotypes of IFT140-related recessive ciliopathies

Abstract

IFT140-related recessive ciliopathy is associated with variants in the IFT140 gene and encompasses a syndromic phenotype or a purely ocular phenotype. However, the associations of the specific variants in IFT140 with the resulting syndromic or ocular phenotype have not been systematically documented. Additionally, it is not known whether the ocular findings differ between the two phenotypes. Our systematic review of existing literature has identified a total of 93 individuals with disease-causing variants of IFT140; most individuals had ophthalmic manifestations. Features of retinal dystrophy were the most common findings in both phenotypes. Cataracts and lens opacities are more common in ocular-only IFT140-related recessive ciliopathy, whereas syndromic IFT140-related recessive ciliopathy has more instances of strabismus.