Article
Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.
Investigative ophthalmology & visual science - 3 Feb 2025
Allon Gilad, Lin Siying, Robson Anthony G, Arno Gavin, Neveu Magella M, Hysi Pirro G, Michaelides Michel, Webster Andrew R, Mahroo Omar A
Abstract excerpt
Purpose: To report findings in GUCA1A-associated retinopathy, a rare autosomal-dominant retinopathy. Methods: Clinical features and investigations from molecularly confirmed patients at a large referral center were analyzed (retrospective cohort study). Results: Nineteen patients (14 families), with five different variants, were included: p.(Tyr99Cys) in 10 families and p.(Leu84Phe), p.(Ile107Thr), p.(Glu111Ala),...
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