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Article

A new mutation in the PDE6C gene in achromatopsia.

European journal of ophthalmology - 1 Jul 2023

Jiménez-Siles Laura, Zamorano-Martín Francisco, García-Lorente María, Urbinati Facundo, Rachwani Anil Rahul, Fernández-Figares María, España-Contreras Manuela

Abstract excerpt

PURPOSE: To report a case of achromatopsia with a new mutation in the PDE6C gene which has not been previously described. METHODS: Case report. PATIENTS: A single patient. RESULTS: A 35-year-old woman with poor vision and impaired color vision. Fundus examination of both eyes (OU) revealed small optic discs. Optical coherence tomography (OCT) showed photoreceptor segment defects and a disruption of the ellipsoid...

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Source

Identifiers

PMID: 35422133
DOI: 10.1177/11206721221093023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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