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Article

PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.

Ophthalmology. Retina - 1 Mar 2025

Hashem Shaima Awadh, Georgiou Michalis, Wright Genevieve, Fujinami-Yokokawa Yu, Laich Yannik, Daich Varela Malena, de Guimaraes Thales A C, Mahroo Omar A, Webster Andrew R, Fujinami Kaoru, Michaelides Michel

Abstract excerpt

PURPOSE: To analyze the genetics, clinical characteristics, and natural history of PDE6A-associated retinitis pigmentosa. DESIGN: Retrospective, longitudinal, observational cohort study. PARTICIPANTS: Patients with molecularly confirmed PDE6A-associated retinal dystrophy in a single tertiary referral center. METHODS: Review of medical records and retinal imaging, including fundus autofluorescence (FAF) imaging...

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Cyclic Nucleotide Phosphodiesterases, Type 6
Electroretinography
Eye Proteins
Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinitis Pigmentosa

Tomography, Optical Coherence

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Identifiers

PMID: 39218074
DOI: 10.1016/j.oret.2024.08.018

Genes

PDE6A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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