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High resolution cone photoreceptor imaging analysis of three occult macular dystrophy patients with RP1L1 mutation

Session Details

Session Title: Imaging I

Session Date/Time: Thursday 26/09/2013 | 08:30-10:30

Paper Time: 08:46

Venue: Hall 3 (Level 0)

First Author: K.Gocho JAPAN

Co Author(s):    S. Kameya   S. Kikuchi   T. Hayashi   K. Tsunoda     

Abstract Details

Purpose:

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

Setting:

Two university hospitals and one National institute hospital combined study.

Methods:

Three OMD patients with same RP1L1mutation (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 analysed from the images obtained at 600 μm and 1200μm from fovea.

Results:

The mean age of volunteers was 36±10.52 (range20±57 years). The mean cone density of volunteer was 2.11 ± 0.37 x 10⁴ cones/mm² at 600μm from the fovea and 1.70 ± 0.31 x 10⁴ cones/mm² at 1200μm from the fovea. The mean inter-cell spacing of volunteer was 7.73 ± 0.81μm at 600μm from the fovea and 8.56 ± 0.93μm at 1200μm from the fovea. The cone density of the right eye of one patient was 4.72 x 10³ at 600μm from the fovea and 3.04 x 10³ cones/mm² at 1200μm from the fovea. The cone density of the right eye of the patient was 13.0μm at 600μm from the fovea and 16.9μm at 1200μm from the fovea. The other two patients showed similar result in the both cone density and inter-cell spacing. 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 three Japanese OMD patients with RP1L1 mutation. Three OMD patients showed decreased cone density and increased inter-cell spacing at both 600μm and 1200μm from the fovea. AO fundus camera and its computed metrics analysis were useful to detect the changes in the cone photoreceptors in OMD.

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