GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data.

ABSTRACT: To report the clinical phenotype and associated genotype of a European patient cohort with GUCY2D-related autosomal-dominant (AD) cone-/cone-rod dystrophy (COD/CORD), we retrospectively analyzed 25 patients (17 female, range 12-68) with GUCY2D-related AD-COD/CORD from three major academic centers in Europe and reviewed the previously published data of 148 patients (visual acuity (VA), foveal thickness, age of first symptoms, and genetic variant). Considering all the patients, the onset of first symptoms was reported at a median age of 7 years (interquartile range 5-19 years, n = 78), and mainly consisted of reduced VA, photophobia and color vision abnormality. The disease showed a high degree of inter-eye symmetry in terms of VA (n = 165, Spearman's ρ = 0.85, p < 0.0001) and foveal thickne

SUBMITTER: Neubauer J 

PROVIDER: S-EPMC8872159 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature