<i>GUCY2D</i>-Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data

<i>GUCY2D</i>-Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data

To report the clinical phenotype and associated genotype of a European patient cohort with <i>GUCY2D</i>-related autosomal-dominant (AD) cone–/cone–rod dystrophy (COD/CORD), we retrospectively analyzed 25 patients (17 female, range 12–68) with <i>GUCY2D</i>-related AD-COD/COR...

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Bibliographic Details
Main Authors: Jonas Neubauer, Leo Hahn, Johannes Birtel, Camiel J. F. Boon, Peter Charbel Issa, M. Dominik Fischer
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Genes
Subjects:
GUCY2D
guanylate cyclase 2D
inherited retinal disease
cone dystrophy
cone–rod dystrophy
visual acuity
Online Access:https://www.mdpi.com/2073-4425/13/2/313

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