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Outer Segment Length in Different Best Disease Genotypes

Michael D. Abràmoff, MD, PhD1; Robert F. Mullins, PhD1; Edwin M. Stone, MD, PhD1
[+] Author Affiliations
1Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City
JAMA Ophthalmol. 2014;132(9):1152-1153. doi:10.1001/jamaophthalmol.2014.2980.
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To the Editor We were interested to read the recent article by David B. Kay et al1 in which adaptive optics scanning laser ophthalmoscopy and spectral-domain optical coherence tomography (SD-OCT) were used to study the retinas of 4 patients with the Arg218Cys mutation in BEST1. The application of adaptive optics scanning laser ophthalmoscopy to Best disease and other inherited macular diseases is contributing exciting new information on the photoreceptor mosaic that was previously unavailable, and the authors are commended for their innovative approach and their intriguing findings related to Best disease pathophysiology.

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Relationship Between Best Disease Genotype, Age, and Photoreceptor Equivalent Thickness

Relationship between Best disease genotype, age, and photoreceptor equivalent thickness of all patients in our 2012 study,2 showing the increased photoreceptor equivalent thickness in affected patients (mean photoreceptor equivalent thickness, 28.3 μm) compared with age-matched control participants (mean photoreceptor equivalent thickness, 21.8 μm). The only patient in this study with the Arg218Cys mutation has a photoreceptor equivalent thickness within the normal range, which is consistent with the findings by David B. Kay et al.1

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September 1, 2014
Kimberly E. Stepien, MD; David B. Kay, BS; Joseph Carroll, PhD
1Department of Ophthalmology, Medical College of Wisconsin, Milwaukee
1Department of Ophthalmology, Medical College of Wisconsin, Milwaukee2Department of Biomedical Engineering, Marquette University, Milwaukee, Wisconsin3Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee4Department of Biophysics, Medical College of Wisconsin, Milwaukee
JAMA Ophthalmol. 2014;132(9):1153. doi:10.1001/jamaophthalmol.2014.2984.
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