A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss

Area of Science:

• Genetics
• Ophthalmology
• Auditory Medicine

Background:

• CEP78 gene mutations are linked to ciliary dysfunction and previously identified as a cause of cone-rod dystrophy (CRD) with sensorineural hearing loss.
• A specific CEP78 variant was previously reported but its pathogenicity and associated phenotype were unclear, with only CRD noted.

Observation:

• This study details a case of cone dystrophy (CD) presenting with sensorineural hearing loss.
• The observed phenotype in this case is associated with the previously reported CEP78 variant of unknown significance.

Findings:

• The findings corroborate the pathogenicity of the specific CEP78 variant.
• This case demonstrates that a single genotype can manifest with different clinical phenotypes, specifically CD with hearing loss instead of the previously reported CRD.

Implications:

• This research expands the understanding of CEP78-related disorders and genotype-phenotype variability.
• It highlights the importance of considering CEP78 in the differential diagnosis of patients with cone dystrophy and sensorineural hearing loss.
• The study underscores the complex relationship between genetic mutations and clinical presentation in inherited retinal and auditory diseases.