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Article

Photoreceptor Structure in GNAT2-Associated Achromatopsia.

Investigative ophthalmology & visual science - 9 Mar 2020

Georgiou Michalis, Singh Navjit, Kane Thomas, Robson Anthony G, Kalitzeos Angelos, Hirji Nashila, Webster Andrew R, Dubra Alfredo, Carroll Joseph, Michaelides Michel

Abstract excerpt

Purpose: The purpose of this study was to report GNAT2-associated achromatopsia (GNAT2-ACHM) natural history, characterize photoreceptor mosaic, and determine a therapeutic window for potential intervention. Methods: Patients with GNAT2-ACHM were recruited from a single tertiary referral eye center (Moorfields Eye Hospital, London, UK). We performed longitudinal clinical evaluation and ophthalmic examination, and...

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Source

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Identifiers

PMID: 32203983
DOI: 10.1167/iovs.61.3.40
PMCID: PMC7401776

Provenance

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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