A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss

Abstract

Mutations in CEP78 lead to abnormal production of cilia and have previously been identified to cause cone-rod dystrophy (CRD) with progressive sensorineural hearing loss. The authors describe a case of cone dystrophy (CD) with sensorineural hearing loss in a variant that had previously been reported to be of unknown significance and associated with CRD only. This report corroborates the pathogenicity of this variant and highlights that different phenotypes may be associated with one genotype. [ Ophthalmic Surg Lasers Imaging Retina 2024;55:XX–XX.]