Abstract：
BACKGROUND: Adrenoleukodystrophy (ALD) encompasses different neurological phenotypes, ranging from the most severe cerebral forms (C-ALD) to the less severe adrenomyeloneuropathy (AMN). As visual system can be varyingly involved, we aimed at exploring whether optical coherence tomography (OCT) may detect retinal abnormalities and their longitudinal changes in adult ALD patients.
METHODS: In this cross-sectional and longitudinal study, we measured the thicknesses of peripapillary retinal nerve fiber layer (pRNFL), macular ganglion cell complex (mGCC), and segmented inner and outer macula at baseline and their changes over time in 11 symptomatic adult ALD males and 10 age- and sex-matched healthy controls. Statistical analyses were performed for the patients as complete group, and splitting them into two subgroups, one (C-ALD) with and the other (AMN) without cerebral parieto-occipital white matter (WM) lesions.
RESULTS: In the complete ALD group and in the C-ALD subgroup, the average pRNFL, mGCC, and inner macula were significantly thinner than in controls (p ≤ 0.01), whereas in the AMN subgroup, they were constantly, though non-significantly, thinner. Significant outer macula thinning was also observed (p < 0.01). In the complete ALD group, follow-up assessment (mean 26.8 months, range 8-48) showed mildly progressive thinning of inferior pRNFL, average mGCC, and inner macula.
CONCLUSIONS: In adult ALD patients, OCT can reveal retinal abnormalities which are prominent in the more compromised patients, namely those with parieto-occipital WM lesions. The inferior pRNFL, average mGCC and inner macula thicknesses might be sensitive-to-change OCT parameters, but their utility and consistency for short-term longitudinal studies deserve further investigations.
METHODS: In this cross-sectional and longitudinal study, we measured the thicknesses of peripapillary retinal nerve fiber layer (pRNFL), macular ganglion cell complex (mGCC), and segmented inner and outer macula at baseline and their changes over time in 11 symptomatic adult ALD males and 10 age- and sex-matched healthy controls. Statistical analyses were performed for the patients as complete group, and splitting them into two subgroups, one (C-ALD) with and the other (AMN) without cerebral parieto-occipital white matter (WM) lesions.
RESULTS: In the complete ALD group and in the C-ALD subgroup, the average pRNFL, mGCC, and inner macula were significantly thinner than in controls (p ≤ 0.01), whereas in the AMN subgroup, they were constantly, though non-significantly, thinner. Significant outer macula thinning was also observed (p < 0.01). In the complete ALD group, follow-up assessment (mean 26.8 months, range 8-48) showed mildly progressive thinning of inferior pRNFL, average mGCC, and inner macula.
CONCLUSIONS: In adult ALD patients, OCT can reveal retinal abnormalities which are prominent in the more compromised patients, namely those with parieto-occipital WM lesions. The inferior pRNFL, average mGCC and inner macula thicknesses might be sensitive-to-change OCT parameters, but their utility and consistency for short-term longitudinal studies deserve further investigations.
摘要：
背景：肾上腺脑白质营养不良（ALD）包括不同的神经表型，范围从最严重的大脑形式（C-ALD）到较不严重的肾上腺神经神经病（AMN）。由于视觉系统可以不同地参与，我们旨在探讨光学相干断层扫描(OCT)是否可以检测成年ALD患者的视网膜异常及其纵向变化.
方法：在这项横向和纵向研究中，我们测量了乳头周围视网膜神经纤维层（pRNFL）的厚度，黄斑神经节细胞复合体（mGCC），在11例有症状的成年ALD男性和10例年龄和性别匹配的健康对照中，基线时的内黄斑和外黄斑分段及其随时间的变化。将患者作为完整组进行统计分析，把它们分成两个小组，一个（C-ALD）与另一个（AMN）无脑顶枕白质（WM）病变。
结果：在完整ALD组和C-ALD亚组中，平均pRNFL，mGCC,内黄斑明显薄于对照组（p≤0.01），而在AMN亚组中，他们不断地，虽然无关紧要，更薄。还观察到显著的外黄斑变薄(p<0.01)。在完整的ALD小组中，随访评估(平均26.8个月，范围8-48）显示下pRNFL轻度进行性变薄，平均mGCC，和内黄斑。
结论：在成人ALD患者中，OCT可以揭示视网膜异常，这些异常在更受损的患者中突出，即有顶枕骨WM病变的患者。较差的pRNFL，平均mGCC和内黄斑厚度可能对改变OCT参数敏感，但它们在短期纵向研究中的实用性和一致性值得进一步研究。
方法：在这项横向和纵向研究中，我们测量了乳头周围视网膜神经纤维层（pRNFL）的厚度，黄斑神经节细胞复合体（mGCC），在11例有症状的成年ALD男性和10例年龄和性别匹配的健康对照中，基线时的内黄斑和外黄斑分段及其随时间的变化。将患者作为完整组进行统计分析，把它们分成两个小组，一个（C-ALD）与另一个（AMN）无脑顶枕白质（WM）病变。
结果：在完整ALD组和C-ALD亚组中，平均pRNFL，mGCC,内黄斑明显薄于对照组（p≤0.01），而在AMN亚组中，他们不断地，虽然无关紧要，更薄。还观察到显著的外黄斑变薄(p<0.01)。在完整的ALD小组中，随访评估(平均26.8个月，范围8-48）显示下pRNFL轻度进行性变薄，平均mGCC，和内黄斑。
结论：在成人ALD患者中，OCT可以揭示视网膜异常，这些异常在更受损的患者中突出，即有顶枕骨WM病变的患者。较差的pRNFL，平均mGCC和内黄斑厚度可能对改变OCT参数敏感，但它们在短期纵向研究中的实用性和一致性值得进一步研究。
