Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy

Purpose: To describe the clinical characteristics, the imaging findings, and the genetic results of a patient with cone-rod dystrophy (CORD) related to mutations in CEP290. Methods: A case report of atypical CEP290-related CORD. Ophthalmological examination was performed, including best-corrected visual acuity (BCVA), fundus photography, fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT), a visual field test, and electroretinography testing. The genetic test was performed by next-generation sequencing (NGS)-based panel test containing 336 genes. Results: A 57-year-old female who had reported a visual loss for 5 years. BCVA was 20/100 in both eyes. The fundus examination revealed a hypopigmented halo around the fovea, showing a paracentral hyperautofluorescent ring on FAF. OCT demonstrated the presence of atrophy in the outer retinal layers. The genetic test identified the probably pathogenic variants c.4028delA and c.5254C>T in compound heterozygosis in CEP290. Conclusions: This is the first report to present the clinical characteristics, imaging findings, and genetic test results of a patient with CEP290-related CORD. Our case contributes to expanding the clinical involvement of CEP290 pathogenic variants. This study indicates that CEP290-related CORD may have a mild phenotype with late-onset dystrophy, making these patients interesting candidates for innovative treatments such as genetic therapeutic approaches.