Article
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
Investigative ophthalmology & visual science - 1 Feb 2017
Zobor Ditta, Werner Annette, Stanzial Franco, Benedicenti Francesco, Rudolph Günther, Kellner Ulrich, Hamel Christian, Andréasson Sten, Zobor Gergely, Strasser Torsten, Wissinger Bernd, Kohl Susanne, Zrenner Eberhart
Abstract excerpt
Purpose: The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. Methods: Thirty-six patients (age 7-56 years) with complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examined, including detailed psychophysical tests, extended electrophysiology, and assessment of morphology by fundus autofluorescence and...
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