September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Cone Photoreceptor Inner and Outer Segment Mosaic Abnormalities in Choroideremia
Author Affiliations & Notes
  • Jessica Ijams Wolfing Morgan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Grace K. Han
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Robert F. Cooper
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
    Psychology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Denise Pearson
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Leona Serrano
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Jean Bennett
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Albert M Maguire
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Alfredo Dubra
    Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Tomas S Aleman
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Footnotes
    Commercial Relationships   Jessica Morgan, Canon, Inc (F), US Patent 8226236 (P); Grace Han, None; Robert Cooper, None; Denise Pearson, None; Leona Serrano, None; Jean Bennett, Astellas Pharmaceuticals (R), Avalanche Technologies (R), Gensight Biologics (S), Spark Therapeutics (S); Albert Maguire, Spark Therapetics (S); Alfredo Dubra, US Patent 8226236 (P); Tomas Aleman, None
  • Footnotes
    Support  NIH U01EY025477; NEI-K12EY015398-10, Foundation Fighting Blindness, Research to Prevent Blindness Stein Innovation Award, the F. M. Kirby Foundation, the Paul and Evanina Mackall Foundation Trust.
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 5112. doi:
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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)

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Abstract

Purpose : To investigate the inner and outer segment (IS, OS) cone photoreceptor mosaic in Chorioderemia (CHM).

Methods : 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).

Results : 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.

Conclusions : 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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