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Kiyoko Gocho, Keiichiro Akeo, Daiki Kubota, Satoshi Katagiri, Sachiko Kikuchi, Takaaki Hayashi, Kunihiko Yamaki, Hiroshi Takahashi, Shuhei Kameya; High resolution imaging analysis of female carriers and patients of choroideremia with CHM gene mutation. Invest. Ophthalmol. Vis. Sci. 2017;58(8):307.
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© ARVO (1962-2015); The Authors (2016-present)
To report the high resolution imaging features of Japanese patient and female carriers of choroideremia using adaptive optics(AO) and other imaging modalities.
Four carriers and one patient of choroideremia underwent comprehensive ophthalmological examinations including AO fundus camera (rtx1™ Imagine eyes, France), spectral domain optical coherence topography (SD-OCT) and fundus autofluoresence (FAF). Cone density was measured by peak density method and compared with the data of 34 normal controls. The mutation analysis of the CHM gene was performed by Sanger sequencing. The protocol conformed to the tenets of the Declaration of Helsinki and was approved by the IRB of The Jikei University and Nippon Medical School.
Three female carriers 1, 2, 3, (sister of patient 9 y.o, mother 37 y.o and grandmother 65 y.o, female) and one patient (6 y.o, male) are from same family. They had same CHM mutation, c.646delA, p.T216LfsX16. Carrier 4 (47 y.o. female) is mother of two choroideremia patients, and she had splice site mutation, c.820-2A>T. All of carriers did not complain any symptoms. The BCVA of all carriers were over 20/20. Fundus examination of carrier 2 showed mild degeneration in only periphery of retina, the other carriers showed diffuse degeneration except fovea. AF imaging showed mottled hypoautofluoresence in area of degeneration. Foveal SD-OCT of the carriers showed nearly normal, although peripheral SD-OCT of carriers and patient showed diffuse disruptions of interdigitation and ellipsoid zones. Cone density was measured at 2 to 8 degree temporal from the fovea in every 1 degree, using 50 x 50 micron square images. Cone counting was performed by AO detect (Imagine eyes) with manual correction. Patient showed lower cone density more than 2 SD of normal control data in every eccentricities counted. The carrier 1 and 2 showed lower cone density only at 7 and 8 degrees and carrier 3 and 4 showed slightly reduced cone densities in all eccentricities.
AO cone counting showed reduction of photoreceptors in female carriers of choroideremia mainly at peripheral region. Subclinical symptom without any complain of female carriers might be associated with peripheral degeneration and foveal sparing. To elucidate the mechanism of peripheral degeneration and foveal sparing of female carriers may help preventing the disease progression of choroideremia patients.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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