Klinik für Neurologie, Charité-Universitätsmedizin Berlin, Berlin, Germany.
PLoS One. 2011;6(7):e23024. doi: 10.1371/journal.pone.0023024. Epub 2011 Jul 29.
Autosomal dominant spinocerebellar ataxia type 1 is an adult onset progressive disorder with well characterized neurodegeneration in the cerebellum and brainstem. Beyond brain atrophy, few data exist concerning retinal and optic nerve involvement.
To evaluate retinal changes in SCA1 patients compared to age and gender matched healthy controls.
METHODOLOGY/PRINCIPAL FINDINGS: Nine patients with SCA1 were prospectively recruited from the ataxia clinic and were compared to nine age and gender matched healthy controls. Both cohorts received assessment of visually evoked potentials and eye examination by optical coherence tomography to determine retinal nerve fiber layer thickness and total macular volume. While no differences were found in visually evoked potentials, SCA1 patients showed a significant reduction of mean retinal nerve fiber layer thickness (RNFLT) compared to healthy controls (84±13 µm vs. 97±8 µm, p = 0.004). Temporal areas showed the most prominent RNFLT reduction with high statistical significances (temporal-inferior: p<0.001, temporal: p<0.001, temporal-superior: p = 0.005) whereas RNFLT in nasal areas was in the range of the control group. From six SCA1 patients an additional macular scan was obtained. The comparison to the corresponding healthy control showed a slight but not significant reduction in TMV (8.22±0.68 mm(3) vs. 8.61±0.41 mm(3), p = 0.15).
In SCA1 patients, we found evidence for degeneration of retinal nerve fibers. The temporal focus of the observed retinal nerve fiber layer reduction suggests an involvement of the papillo-macular bundle which resembles pathology found in toxic or mitochondrial optic nerve disease such as Leber's hereditary optic neuropathy (LHON) or dominant optic atrophy (DOA).
常染色体显性遗传性小脑共济失调 1 型是一种成年起病的进行性疾病，其特征为小脑和脑干的神经退行性变。除了脑萎缩外，关于视网膜和视神经受累的资料很少。
评估 SCA1 患者的视网膜变化，并与年龄和性别匹配的健康对照组进行比较。
方法/主要发现：从共济失调诊所前瞻性招募了 9 名 SCA1 患者，并与 9 名年龄和性别匹配的健康对照组进行比较。两组均接受视觉诱发电位和光学相干断层扫描检查，以确定视网膜神经纤维层厚度和全黄斑体积。虽然在视觉诱发电位方面没有差异，但 SCA1 患者的平均视网膜神经纤维层厚度（RNFLT）明显低于健康对照组（84±13 µm 与 97±8 µm，p=0.004）。颞区表现出最明显的 RNFLT 减少，具有高度统计学意义（颞下：p<0.001，颞：p<0.001，颞上：p=0.005），而鼻区的 RNFLT 在对照组范围内。从 6 名 SCA1 患者中获得了额外的黄斑扫描。与相应的健康对照组相比，TMV 略有但无统计学意义的减少（8.22±0.68 mm(3) 与 8.61±0.41 mm(3)，p=0.15）。
在 SCA1 患者中，我们发现了视网膜神经纤维变性的证据。观察到的视网膜神经纤维层减少的颞侧焦点提示乳头黄斑束受累，类似于 Leber 遗传性视神经病变（LHON）或显性视神经萎缩（DOA）等中毒性或线粒体视神经疾病的病理。
