TY - JOUR
T1 - Pathologic changes of cone photoreceptors in eyes with occult macular dystrophy
AU - Nakanishi, Ayami
AU - Ueno, Shinji
AU - Kawano, Kenichi
AU - Ito, Yasuki
AU - Kominami, Taro
AU - Yasuda, Shunsuke
AU - Kondo, Mineo
AU - Tsunoda, Kazushige
AU - Iwata, Takeshi
AU - Terasaki, Hiroko
N1 - Publisher Copyright:
© 2015 The Association for Research in Vision and Ophthalmology, Inc.
PY - 2015/11/1
Y1 - 2015/11/1
N2 - PURPOSE. Occult macular dystrophy (OMD) is an inherited retinal disease characterized by a progressive decrease of vision and appearance of normal fundus. To determine the pathologic features of OMD, we investigated the alternation of the photoreceptors using quantitative image analysis. METHODS. We studied 22 eyes of 11 OMD patients. Three of them had a mutation (R45W) in RP1L1. The relative intensities of the ellipsoid zone in the spectral-domain optical coherence tomography (SD-OCT) images and the density of the cone photoreceptors in the adaptive optics (AO) fundus images of the OMD patients were compared to those of normal controls. RESULTS. The relative intensities of the ellipsoid zone in the SD-OCT images of patients with OMD were significantly lower (P < 0.001) by an average of 16% compared to that of the normal controls. Normal cone mosaics were not observed in the AO images of the macula in the eyes with OMD. The mean ± SD of cone density of the 9 OMD patients was 1970 ± 884 cells/mm2 at 2°, 1124 ± 483 cells/mm2 at 3°, and 1288 ± 715 cells/mm2 at 4° nasal to the fovea. The cone densities at 2°, 3°, and 4° nasal to the fovea of OMD were significantly lower than those of the normal controls (P < 0.001). CONCLUSIONS. A sparse array of cone photoreceptors with significantly reduced density of the macula is one of the morphologic features of OMD.
AB - PURPOSE. Occult macular dystrophy (OMD) is an inherited retinal disease characterized by a progressive decrease of vision and appearance of normal fundus. To determine the pathologic features of OMD, we investigated the alternation of the photoreceptors using quantitative image analysis. METHODS. We studied 22 eyes of 11 OMD patients. Three of them had a mutation (R45W) in RP1L1. The relative intensities of the ellipsoid zone in the spectral-domain optical coherence tomography (SD-OCT) images and the density of the cone photoreceptors in the adaptive optics (AO) fundus images of the OMD patients were compared to those of normal controls. RESULTS. The relative intensities of the ellipsoid zone in the SD-OCT images of patients with OMD were significantly lower (P < 0.001) by an average of 16% compared to that of the normal controls. Normal cone mosaics were not observed in the AO images of the macula in the eyes with OMD. The mean ± SD of cone density of the 9 OMD patients was 1970 ± 884 cells/mm2 at 2°, 1124 ± 483 cells/mm2 at 3°, and 1288 ± 715 cells/mm2 at 4° nasal to the fovea. The cone densities at 2°, 3°, and 4° nasal to the fovea of OMD were significantly lower than those of the normal controls (P < 0.001). CONCLUSIONS. A sparse array of cone photoreceptors with significantly reduced density of the macula is one of the morphologic features of OMD.
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U2 - 10.1167/iovs.15-16742
DO - 10.1167/iovs.15-16742
M3 - Article
C2 - 26544792
AN - SCOPUS:84946594067
VL - 56
SP - 7243
EP - 7249
JO - Investigative Ophthalmology
JF - Investigative Ophthalmology
SN - 0146-0404
IS - 12
ER -