April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Observations of cone photoreceptors by adaptive optics fundus camera in eyes with occult macular dystrophy
Author Affiliations & Notes
  • Ayami Nakanishi
    Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • Shinji Ueno
    Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • Kenichi Kawano
    Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • Yasuki Ito
    Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • Kazushige Tsunoda
    Laboratory of Visual Physiology, National Institute of Sensory Organs, Tokyo, Japan
  • Masakazu Akahori
    Division of Molecular and Cellular Biology, National Institute of Sensory Organs, Tokyo, Japan
  • Takeshi Iwata
    Division of Molecular and Cellular Biology, National Institute of Sensory Organs, Tokyo, Japan
  • Hiroko Terasaki
    Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 2612. doi:
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      Ayami Nakanishi, Shinji Ueno, Kenichi Kawano, Yasuki Ito, Kazushige Tsunoda, Masakazu Akahori, Takeshi Iwata, Hiroko Terasaki; Observations of cone photoreceptors by adaptive optics fundus camera in eyes with occult macular dystrophy. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2612.

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

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Abstract

Purpose: Occult macular dystrophy (OMD) is an inherited macular dystrophy with a progressive decrease of visual acuity but with essentially normal fundus. There are several reports of the cone photoreceptors in eyes with OMD obtained by adaptive optics (AO) imaging, but no specific feature has been reported. The purpose of this study was to determine whether common morphologic abnormalities can be detected by AO fundus camera in OMD patients

Methods: Twenty-two eyes of 11 OMD patients were studied. All patients were diagnosed OMD by the BCVA, fundus examinations, full-field electroretinograms (ERGs), focal macular ERGs, multifocal ERGs, fluoresein angiography, fundus autofluorescence imaging, and spectral domain optical coherence tomography (SD-OCT). Their ages ranged from 20 to 69 years (mean 47±15 years) and consisted of 7 men and 5 women. Their decimal BCVA were ranged from 0.1 to 0.6. A mutation of RP1-L1 gene (R45W), one of the causative genes of OMD, was confirmed in 2 patients by genetic screening, and the others did not have this mutation. We obtained images of the central retina with the AO fundus camera (rtx1™, Imagine eyes, France) and compared them to those obtained from 30 healthy control eyes.

Results: In the control eyes, a well-defined cone photoreceptor mosaic pattern was detected over most of the central retina. But in OMD patients, this pattern was not detected and numerous bright particles were detected randomly spread throughout the central retina on a blurred background instead. The size of particles was comparable to that of cone photoreceptors.

Conclusions: The AO fundus images showed an absence of a normal cone photoreceptor mosaic pattern in the central retina of OMD patients. This supports the focal macular ERG and the SD-OCT findings of cone photoreceptor damage in the macular area. The numerous bright particles seen in all of the OMD patients appear to be one of characteristic features in the AO fundus images of OMD retina.

Keywords: 696 retinal degenerations: hereditary • 550 imaging/image analysis: clinical • 494 degenerations/dystrophies  
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