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Article

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

Ophthalmic genetics - 1 Aug 2021

Vilaplana Ferran, Ros Andrea, Garcia Belen, Blanco Ignacio, Castellanos Elisabeth, Edwards Nicholas John, Valldeperas Xavier, Ruiz-Bilbao Susana, Sabala Antonio

Abstract excerpt

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...

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PMID: 33886416
DOI: 10.1080/13816810.2021.1916827

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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