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Article

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.

American journal of ophthalmology - 1 Jul 2024

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

Abstract excerpt

PURPOSE: To analyze the clinical characteristics, natural history, and genetics of PDE6B-associated retinal dystrophy. DESIGN: Retrospective, observational cohort study. METHODS: Review of medical records and retinal imaging, including fundus autofluorescence (FAF) imaging and spectral-domain optical coherence tomography (SD-OCT) of patients with molecularly confirmed PDE6B-associated retinal dystrophy in a...

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Share to Cyclic Nucleotide Phosphodiesterases, Type 6
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38364953
DOI: 10.1016/j.ajo.2024.02.005

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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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