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.

中文翻译：

---

成人肾上腺白质营养不良的光学相干断层扫描：横断面和纵向研究。

背景

肾上腺皮质营养不良（ALD）涵盖不同的神经表型，范围从最严重的脑型（C-ALD）到较不严重的肾上腺神经病（AMN）。由于视觉系统可能涉及不同程度，因此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

在这项横断面和纵向研究中，我们测量了11名有症状的成年ALD男性在基线时的乳头周围视网膜神经纤维层（pRNFL），黄斑神经节细胞复合物（mGCC）以及分段的内，外黄斑的厚度及其随时间的变化。和10个年龄和性别相匹配的健康对照。对患者进行统计学分析，将其分为完整的一组，将其分为两个亚组，一个亚组（C-ALD），另一个（AMN）无脑顶枕白质（WM）病变。

结果

在完全的ALD基和在C-ALD亚组中，平均pRNFL，MGCC，和内黄斑均显著薄于对照组（p  ≤0.01），而在AMN亚组，它们不断地，但非显著，更薄。还观察到外黄斑明显变薄（p  <0.01）。在完整的ALD组中，随访评估（平均26.8个月，范围8-48）显示了下pRNFL，平均mGCC和内黄斑轻度进行性变薄。

结论

在成年的ALD患者中，OCT可以显示视网膜异常，这在较易受累的患者（即具有顶枕WM病变的患者）中尤为突出。较差的pRNFL，平均mGCC和内部黄斑厚度可能对变化的OCT参数敏感，但是它们在短期纵向研究中的效用和一致性值得进一步研究。