CEP78 gene mutation as the underlying cause of Cone-Rod Dystrophy associated with hearing loss and infertility

This case describes a 23-year-old male patient with no family history of retinal diseases who presented with progressive vision loss, photophobia, and reduced color perception. Over the course of eight years, his visual acuity deteriorated, with central and near vision becoming significantly impaired. Molecular testing revealed a mutation in the CEP78 gene, confirming a diagnosis of cone and rod dystrophy (CRD). Diagnostic imaging, including autofluorescence, Optical Coherence Tomography (OCT), and electroretinograms, showed characteristic retinal changes, including thinning of the nerve fiber layer and reduced photoreceptor function. Although the patient reported no auditory symptoms, auditory evoked potentials revealed bilateral abnormalities, and a semen analysis showed mild sperm motility and morphology issues, suggesting possible infertility. This case highlights the importance of CEP78 mutations in CRD, as well as their association with hearing loss and fertility issues, providing valuable insights for diagnosis and potential therapeutic approaches.