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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. 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. 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. 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.


Ferran Vilaplana, Andrea Ros, Belen Garcia, Ignacio Blanco, Elisabeth Castellanos, Nicholas John Edwards, Xavier Valldeperas, Susana Ruiz-Bilbao, Antonio Sabala. Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy. Ophthalmic genetics. 2021 Aug;42(4):474-479

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PMID: 33886416

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