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Jessica Ijams Wolfing Morgan, Grace K. Han, Robert F. Cooper, Denise Pearson, Leona Serrano, Jean Bennett, Albert M Maguire, Alfredo Dubra, Tomas S Aleman; Cone Photoreceptor Inner and Outer Segment Mosaic Abnormalities in Choroideremia. Invest. Ophthalmol. Vis. Sci. 2016;57(12):5112.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the inner and outer segment (IS, OS) cone photoreceptor mosaic in Chorioderemia (CHM).
Thirty-six patients with CHM had an ocular exam and were recruited for this prospective study. The test protocol included adaptive optics scanning light ophthalmoscopy (AOSLO), spectral-domain optical coherence tomography (OCT), near-infrared reflectance (NIR-REF), short wavelength fundus autofluorescence (SW-FAF), visual acuity, and fundus guided microperimetry. Using an AOSLO from Canon, Inc. (Tokyo, Japan) and a custom AOSLO instrument, all subjects had confocal AOSLO photoreceptor imaging to evaluate OS mosaic reflectance. Nonconfocal split-detection and dark-field AOSLO images were also acquired in 13 of the 36 subjects to evaluate the IS mosaic integrity and the retinal pigment epithelium (RPE).
CHM patients exhibited a central island of relatively preserved RPE pigmentation with scalloped edges that coincided with a transitional zone from a better preserved retinal structure to a very thin and depigmented retina on OCT and NIR-REF, respectively. The cone OS reflectance mosaic could be observed within this island, but with local pockets of disruption, including both hyper-reflective spots uncharacteristic of photoreceptors and dark patches with no detectable cone signal. The IS mosaic at these locations were also abnormal, with visibly misshapen, enlarged, and/or elongated cells. Close to the edge of the retinal lesion, OS reflectance was abnormal and IS were irregularly shaped, non-uniform in size, and extended beyond the visible OS mosaic. The IS mosaic was commonly visible along and within outer retinal tubulations (ORTs), though it did not extend to the end of the ORTs. In addition, what appeared to be remnants of IS can be seen outside of the atrophic border. OCTs showed loss of the OS/RPE interdigitation layer signal, outer nuclear layer thinning, signs of inner retinal remodeling, interlaminar bridges, various configurations of ORTs, and loss of SW-FAF signal.
CHM patients exhibited unhealthy cone photoreceptors with a spectrum of IS and OS mosaic abnormalities within and at the atrophic border. Future studies will examine the IS and OS mosaics longitudinally and evaluate how the mosaics respond to experimental gene therapy for CHM.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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