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Article

Deep Phenotyping of PDE6C-Associated Achromatopsia.

Investigative ophthalmology & visual science - 2 Dec 2019

Georgiou Michalis, Robson Anthony G, Singh Navjit, Pontikos Nikolas, Kane Thomas, Hirji Nashila, Ripamonti Caterina, Rotsos Tryfon, Dubra Alfredo, Kalitzeos Angelos, Webster Andrew R, Carroll Joseph, Michaelides Michel

Abstract excerpt

Purpose: To perform deep phenotyping of subjects with PDE6C achromatopsia and examine disease natural history. Methods: Eight subjects with disease-causing variants in PDE6C were assessed in detail, including clinical phenotype, best-corrected visual acuity, fundus autofluorescence, and optical coherence tomography. Six subjects also had confocal and nonconfocal adaptive optics scanning light ophthalmoscopy,...

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Identifiers

PMID: 31826238
DOI: 10.1167/iovs.19-27761
PMCID: PMC6905659

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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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