Miyata Manabu, Hata Masayuki, Ooto Sotaro, Ogino Ken, Gotoh Norimoto, Morooka Satoshi, Hasegawa Tomoko, Hirashima Takako, Sugahara Masako, Kuroda Yoshimasa, Yamashiro Kenji, Yoshimura Nagahisa
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Retina. 2017 Jun;37(6):1193-1202. doi: 10.1097/IAE.0000000000001323.
To compare atrophy of the choroid and retina between Bietti crystalline dystrophy (BCD) patients and EYS-related retinitis pigmentosa (RP) patients with a similar degree of central visual field defects, age, and axial length (AL).
Nine eyes of nine BCD patients with CYP4V2 mutations (BCD group) were examined. Moreover, we selected 10 eyes of 10 RP patients with EYS mutations matched for age, axial length, and mean deviation (measured with the 10-2 SITA standard program; EYS-RP group), and 10 eyes of 10 normal volunteers matched for age and axial length (control group). Macular thicknesses of the choroid and retina were measured via swept-source optical coherence tomography.
The macular choroid was significantly thinner in the BCD group than in the EYS-RP and control groups, although the thickness did not significantly differ between the EYS-RP and control groups. The macular retina was significantly thinner in the BCD and EYS-RP groups than in the control group, although the thickness did not significantly differ between the BCD and EYS-RP groups at most sites.
Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS.
比较贝氏结晶状视网膜变性（BCD）患者与因EYS相关的视网膜色素变性（RP）患者在中心视野缺损程度、年龄和眼轴长度（AL）相似的情况下脉络膜和视网膜的萎缩情况。
对9例携带CYP4V2突变的BCD患者的9只眼进行检查（BCD组）。此外，我们选择了10例携带EYS突变且年龄、眼轴长度和平均偏差相匹配的RP患者的10只眼（用10-2 SITA标准程序测量；EYS-RP组），以及10例年龄和眼轴长度相匹配的正常志愿者的10只眼（对照组）。通过扫频光学相干断层扫描测量脉络膜和视网膜的黄斑厚度。
BCD组的黄斑脉络膜比EYS-RP组和对照组明显更薄，尽管EYS-RP组和对照组之间的厚度没有显著差异。BCD组和EYS-RP组的黄斑视网膜比对照组明显更薄，尽管在大多数部位BCD组和EYS-RP组之间的厚度没有显著差异。
与因EYS相关的RP患者相比，携带CYP4V2突变的贝氏结晶状视网膜变性患者表现出更严重的黄斑脉络膜萎缩。这些不同的损伤模式表明CYP4V2和EYS在脉络膜表达上存在差异。
