June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
High resolution cone photoreceptor imaging analysis of an occult macular dystrophy patient with RP1L1 mutation
Author Affiliations & Notes
  • Shuhei Kameya
    Ophthalmology, Chiba Hokusoh Hosp Nippon Med Sch, Inzai, Japan
  • Takenori Kabuto
    Ophthalmology, Chiba Hokusoh Hosp Nippon Med Sch, Inzai, Japan
  • Sachiko Kikuchi
    Ophthalmology, Chiba Hokusoh Hosp Nippon Med Sch, Inzai, Japan
  • Hisatomo Takahashi
    Ophthalmology, Chiba Hokusoh Hosp Nippon Med Sch, Inzai, Japan
  • Kiyoko Gocho
    Ophthalmology, Chiba Hokusoh Hosp Nippon Med Sch, Inzai, Japan
  • Kunihiko Yamaki
    Ophthalmology, Chiba Hokusoh Hosp Nippon Med Sch, Inzai, Japan
  • Hiroshi Takahashi
    Ophthalmology, Nippon Medical School, Tokyo, Japan
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 3455. doi:
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    • Get Citation

      Shuhei Kameya, Takenori Kabuto, Sachiko Kikuchi, Hisatomo Takahashi, Kiyoko Gocho, Kunihiko Yamaki, Hiroshi Takahashi; High resolution cone photoreceptor imaging analysis of an occult macular dystrophy patient with RP1L1 mutation. Invest. Ophthalmol. Vis. Sci. 2013;54(15):3455.

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

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Abstract

Purpose: To analyze cone photoreceptor degeneration by adaptive optics (AO) fundus camera in a Japanese occult macular dystrophy (OMD) patient with mutation in the RP1-like protein 1 (RP1L1) gene.

Methods: An OMD patient with RP1L1 mutation (S1199C) and 20 normal volunteer underwent high resolution imaging analysis. High-resolution en face images were obtained using a flood-illumination AO fundus camera (Imagine Eyes, Orsay, France). We have statistically analyzed biomarker metrics (cone density, inter-cell spacing) computed from the images. These metrics are analyzed from the images obtained at 600 μm and 1200 μm from the fovea.

Results: The mean age of volunteers is 36.0±10.5 (range 20-57 years). The mean cone density of volunteers was 2.11±0.37 x 104 cones/mm2 at 600 μm from the fovea and 1.70±0.31 x 104 cones/mm2 at 1200 μm from the fovea. The mean inter-cell spacing of volunteers was 7.73±0.81 μm at 600 μm from the fovea and 8.56±0.93 μm at 1200 μm from the fovea. The cone density of the right eye of the patient was 4.72 x 103 cones/mm2 at 600 μm from the fovea and 3.04 x 103 cones/mm2 at 1200 μm from the fovea. The inter-cell spacing of the right eye of the patient was 13.0 μm at 600 μm from the fovea and 16.9 μm at 1200 μm from the fovea. The cone density and inter-cell spacing of the patient were outside the range of the both standard deviation and 95% confidence intervals of normal volunteer.

Conclusions: We have analyzed high resolution images of a Japanese OMD patient with RP1L1 mutation. An OMD patient showed decreased cone density and increased inter-cell spacing at both 600 μm and 1200 μm from the fovea. AO fundus camera and its computed metrics analysis were useful to detect the changes in the cone photoreceptors in OMD.

Keywords: 507 electrophysiology: clinical • 550 imaging/image analysis: clinical • 585 macula/fovea  
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