Sawa Miki, Ober Michael D, Freund K Bailey, Spaide Richard F
Vitreous-Retina-Macular Consultants of New York and the LuEsther T. Mertz Retinal Research Center, New York, New York 10022, USA.
Ophthalmology. 2006 May;113(5):814-20.e2. doi: 10.1016/j.ophtha.2006.01.037.
To evaluate the autofluorescence findings of patients with pseudoxanthoma elasticum, a disease resulting from a defect in a reputed transport protein encoded by the gene adenosine triphosphate-binding cassette subtype C number 6.
Observational case series.
Color, red-free monochromatic, and autofluorescence photography and fluorescein angiography of patients with pseudoxanthoma elasticum seen in a referral practice were evaluated.
Cataloging of the abnormalities as detected by autofluorescence photography.
The 8 subjects ranged in age from 26 to 60 years (mean, 55+/-12), and their best-corrected visual acuity ranged from 20/20 to 5/400 (mean, 20/50). Of the 16 eyes of the 8 patients, all had abnormalities typical of pseudoxanthoma elasticum, including angioid streaks in 14, peau d'orange in 4, and choroidal neovascularization in 11. Angioid streaks appeared as hypoautofluorescent fissures, sometimes showing expansion of the hypoautofluorescence suggestive of retinal pigment epithelium (RPE) absence or atrophy. Peau d'orange had a stippled appearance of autofluorescence, and drusen of the optic nerve appeared as hyperautofluorescent bodies. In addition to the expansion of RPE atrophy around angioid streaks, 3 additional configurations of RPE atrophy were recognized as RPE rips in 6 eyes, multilobular areas of atrophy in 9 eyes, and broad areas of poorly demarcated atrophy in 5 eyes. Some eyes had more than one manifestation of RPE atrophy, but the latter 3 types of atrophy occurred in eyes with, but not necessary contiguous to, concurrent choroidal neovascularization.
Autofluorescence photography demonstrated that patients with pseudoxanthoma elasticum have more widespread areas of RPE disturbance, particularly atrophy, than what is detectable by other means of ocular imaging, which suggests that the RPE disturbance may play a role in the pathogenesis of visual loss in patients with pseudoxanthoma elasticum.
评估弹性假黄瘤患者的自发荧光表现，弹性假黄瘤是一种由基因三磷酸腺苷结合盒亚家族C成员6编码的著名转运蛋白缺陷引起的疾病。
观察性病例系列。
对转诊诊所中所见弹性假黄瘤患者进行彩色、无赤单色和自发荧光摄影以及荧光素血管造影评估。
通过自发荧光摄影检测到的异常情况分类。
8名受试者年龄在26至60岁之间（平均55±12岁），最佳矫正视力在20/20至5/400之间（平均20/50）。8例患者的16只眼中，均有弹性假黄瘤的典型异常，包括14只眼出现血管样条纹、4只眼出现橘皮样改变、11只眼出现脉络膜新生血管。血管样条纹表现为低自发荧光裂隙，有时低自发荧光区扩大，提示视网膜色素上皮（RPE）缺失或萎缩。橘皮样改变有散在的自发荧光外观，视神经玻璃膜疣表现为高自发荧光体。除血管样条纹周围RPE萎缩扩大外，还识别出另外3种RPE萎缩形态，分别为6只眼中的RPE撕裂、9只眼中的多叶萎缩区和5只眼中边界不清的广泛萎缩区。部分眼有不止一种RPE萎缩表现，但后3种萎缩类型出现在伴有脉络膜新生血管的眼中，而非一定与之相邻。
自发荧光摄影显示，弹性假黄瘤患者的RPE紊乱区域，尤其是萎缩区域，比其他眼部成像方法可检测到的范围更广，这表明RPE紊乱可能在弹性假黄瘤患者视力丧失的发病机制中起作用。
