Article
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Investigative ophthalmology & visual science - 3 Jan 2022
Kruijt Charlotte C, Gradstein Libe, Bergen Arthur A, Florijn Ralph J, Arveiler Benoit, Lasseaux Eulalie, Zanlonghi Xavier, Bagdonaite-Bejarano Laura, Fulton Anne B, Yahalom Claudia, Blumenfeld Anat, Perez Yonatan, Birk Ohad S, de Wit Gerard C, Schalij-Delfos Nicoline E, van Genderen Maria M
Abstract excerpt
Purpose: The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussation defect, and Anterior segment abnormalities (FHONDA syndrome), to describe the phenotypic spectrum, and to compare it to albinism. Subjects and Methods: We retrospectively collected molecular, ophthalmic, and electrophysiological data of 28 patients molecularly confirmed with FHONDA...
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