G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
W Cella, VC Greenstein, J Zernant-Rajang… - Experimental eye …, 2009 - Elsevier
The aim of this study was to characterize the pathological and functional consequences of
the G1961E mutant allele in the Stargardt disease gene ABCA4. Data from 15 patients were
retrospectively reviewed and all the patients had at least one G1961E mutation.
Comprehensive ophthalmic examination, full-field and pattern electroretinograms, and
fundus autofluorescence (FAF) imaging were performed on all patients. Microperimetry,
spectral-domain optical coherence tomography (OCT), and fluorescein angiography were …
the G1961E mutant allele in the Stargardt disease gene ABCA4. Data from 15 patients were
retrospectively reviewed and all the patients had at least one G1961E mutation.
Comprehensive ophthalmic examination, full-field and pattern electroretinograms, and
fundus autofluorescence (FAF) imaging were performed on all patients. Microperimetry,
spectral-domain optical coherence tomography (OCT), and fluorescein angiography were …