Mohammad Sarim, Gottlob Irene, Sheth Viral, Pilat Anastasia, Lee Helena, Pollheimer Ellen, Proudlock Frank Anthony
Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4611-8. doi: 10.1167/iovs.15-16856.
To characterize abnormalities in three-dimensional optic nerve head (ONH) morphology in people with albinism (PWA) using spectral-domain optical coherence tomography (SD-OCT) and to determine whether ONH abnormalities relate to other retinal and clinical abnormalities.
Spectral-domain OCT was used to obtain three-dimensional images from 56 PWA and 60 age- and sex-matched control subjects. B-scans were corrected for nystagmus-associated motion artefacts. Disc, cup, and rim ONH dimensions and peripapillary retinal nerve fiber layer (ppRNFL) thickness were calculated using Copernicus and ImageJ software.
Median disc areas were similar in PWA (median = 1.65 mm2) and controls (1.71 mm2, P = 0.128), although discs were significantly elongated horizontally in PWA (P < 0.001). In contrast, median optic cup area in PWA (0.088 mm2) was 23.7% of that in controls (0.373 mm2, P < 0.001), with 39.4% of eyes in PWA not demonstrating a measurable optic cup. This led to significantly smaller cup to disc ratios in PWA (P < 0.001). Median rim volume in PWA (0.273 mm3) was 136.6% of that in controls (0.200 mm3). The ppRNFL was significantly thinner in PWA compared with controls (P < 0.001), especially in the temporal quadrant. In PWA, ppRNFL thickness was correlated to ganglion cell thickness at the central fovea (P = 0.007). Several ONH abnormalities, such as cup to disc ratio, were related to higher refractive errors in PWA.
In PWA, ocular maldevelopment is not just limited to the retina but also involves the ONH. Reduced ppRNFL thickness is consistent with previous reports of reduced ganglion cell numbers in PWA. The thicker rim volumes may be a result of incomplete maturation of the ONH.
使用频域光学相干断层扫描（SD-OCT）对白化病患者（PWA）的三维视神经乳头（ONH）形态异常进行特征描述，并确定ONH异常是否与其他视网膜及临床异常相关。
使用频域OCT从56例PWA患者和60例年龄及性别匹配的对照者获取三维图像。对B扫描进行眼震相关运动伪影校正。使用哥白尼和ImageJ软件计算视盘、视杯和边缘ONH尺寸以及视乳头周围视网膜神经纤维层（ppRNFL）厚度。
PWA患者的视盘面积中位数（中位数 = 1.65 mm²）与对照组（1.71 mm²，P = 0.128）相似，尽管PWA患者的视盘在水平方向显著拉长（P < 0.001）。相比之下，PWA患者的视杯面积中位数（0.088 mm²）为对照组（0.373 mm²，P < 0.001）的23.7%，PWA患者中39.4%的眼睛未显示可测量的视杯。这导致PWA患者的杯盘比显著更小（P < 0.001）。PWA患者的边缘体积中位数（0.273 mm³）为对照组（0.200 mm³）的136.6%。与对照组相比，PWA患者的ppRNFL显著更薄（P < 0.001），尤其是在颞侧象限。在PWA患者中，ppRNFL厚度与中央凹处神经节细胞厚度相关（P = 0.007）。一些ONH异常，如杯盘比，与PWA患者更高的屈光不正相关。
在PWA患者中，眼部发育异常不仅限于视网膜，还涉及ONH。ppRNFL厚度降低与先前关于PWA患者神经节细胞数量减少的报道一致。边缘体积增厚可能是ONH不完全成熟的结果。
