April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Outer Retinal Changes Associated with the RPGR Carrier Phenotype: Insights from high-resolution imaging
Author Affiliations & Notes
  • Rola Ba-Abbad
    UCL Institute of Ophthalmology, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • Adam Pack
    School of Medicine, University College London, London, United Kingdom
  • Jonathan Aboshiha
    UCL Institute of Ophthalmology, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • Yusufu N B Sulai
    Institute of Optics, University of Rochester, Rochester, NY
  • Alfredo Dubra
    Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI
    Department of Biophysics, Medical College of Wisconsin, Milwaukee, WI
  • Andrew Webster
    UCL Institute of Ophthalmology, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • Anthony T Moore
    UCL Institute of Ophthalmology, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • Adam Dubis
    UCL Institute of Ophthalmology, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • Joseph Carroll
    Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI
  • Michel Michaelides
    UCL Institute of Ophthalmology, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • Footnotes
    Commercial Relationships Rola Ba-Abbad, None; Adam Pack, None; Jonathan Aboshiha, None; Yusufu Sulai, None; Alfredo Dubra, Canon USA Inc (C), US Patent 8,226,236 (P); Andrew Webster, None; Anthony Moore, None; Adam Dubis, None; Joseph Carroll, None; Michel Michaelides, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 274. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Rola Ba-Abbad, Adam Pack, Jonathan Aboshiha, Yusufu N B Sulai, Alfredo Dubra, Andrew Webster, Anthony T Moore, Adam Dubis, Joseph Carroll, Michel Michaelides; Outer Retinal Changes Associated with the RPGR Carrier Phenotype: Insights from high-resolution imaging. Invest. Ophthalmol. Vis. Sci. 2014;55(13):274. doi: https://doi.org/.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: Retinal structure and function in carriers of X-linked retinitis pigmentosa (XLRP) have been investigated previously, with an inconsistent correlation between the tapetal-like reflex seen on clinical examination and various imaging modalities. In this study we assessed the cone and rod photoreceptor mosaic in a cohort of unrelated carriers of RPGR-associated XLRP and examined retinal reflectivity using a multimodal imaging approach.

Methods: Obligate carriers of XLRP were identified and underwent full ophthalmic examination including visual acuity, color fundus photography, fundus autofluorescence (AF) imaging, spectral domain optical coherence tomography (SDOCT), and adaptive optics scanning light ophthalmoscopy (AOSLO).

Results: Five subjects with an age range of 28 to 62 years were examined. All had 20/20 visual acuity in both eyes, except for one patient who had unilateral amblyopia. Two patients described difficulties with night vision. In four patients a tapetal-like reflex (TLR) was clinically detectable bilaterally. The fifth subject had sparse bone-spicule retinal pigmentation. Fundus AF imaging ranged from normal to peri-macular areas of increased AF, with no definite co-localization with the TLR. SDOCT showed normal retinal lamination in all patients. AOSLO showed multiple small areas of variable rod loss and rod hyper-reflectivity, with normal appearing cones, in the 4 subjects with a TLR. The fifth subject with bone-spicule pigmentation had no evidence of rod loss or abnormality in rod reflectivity.

Conclusions: We speculate that the rod hyper-reflectivity may underlie the TLR seen clinically. It is of note that no abnormality in rod reflectance was seen in the single obligate carrier without a TLR. It remains to be established via serial assessments over time whether the degree of rod loss and photoreceptor reflectance disturbance have prognostic implications.

Keywords: 550 imaging/image analysis: clinical • 648 photoreceptors • 696 retinal degenerations: hereditary  
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×