Rojas Pilar, Ramírez Ana I, Hoz Rosa de, Cadena Manuel, Ferreras Antonio, Monsalve Blanca, Salobrar-García Elena, Muñoz-Blanco José L, Urcelay-Segura José L, Salazar Juan J, Ramírez José M
Hospital General Universitario Gregorio Marañón, Instituto Oftálmico de Madrid, 28007 Madrid, Spain.
Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Universidad Complutense de Madrid, 28040 Madrid, Spain.
Diagnostics (Basel). 2020 Jan 29;10(2):75. doi: 10.3390/diagnostics10020075.
Background: This study compared functional and structural visual changes in Friedreich ataxia (FRDA) patients with healthy controls (HC) and correlated these changes with neurological disability.
Eight FRDA Spanish patients and eight HC were selected from 2014 to 2018. Best corrected visual acuity (BCVA), visual field (VF), optic coherence tomography (OCT), and neurological disability measured by "scale for the assessment and rating of ataxia" (SARA) were taken in a basal exploration and repeated after 6 months. A linear mixed analysis and Bonferroni value correction were performed.
FRDA baseline and follow-up patients showed statistically significant decreases in BCVA, VF, and OCT parameters compared with the HC. Some of the VF measurements and most of the OCT parameters had an inverse mild-to-strong correlation with SARA. Moreover, the analysis of the ROC curve demonstrated that the peripapillary retinal nerve fiber layer (pRNFL) average thickness was the best parameter to discriminate between FRDA patients and HC.
The follow-up study showed a progression in OCT parameters. Findings showed a sequential effect in pRNFL, ganglion cell complex (GCC), and macula. The VF and the OCT could be useful biomarkers in FRDA, both for their correlation with neurological disease as well as for their ability to evaluate disease progression.
背景：本研究比较了弗里德赖希共济失调（FRDA）患者与健康对照者（HC）的视觉功能和结构变化，并将这些变化与神经功能障碍相关联。
2014年至2018年选取了8名西班牙FRDA患者和8名HC。在基础检查中测量最佳矫正视力（BCVA）、视野（VF）、光学相干断层扫描（OCT）以及用“共济失调评估和评级量表”（SARA）测量的神经功能障碍，并在6个月后重复测量。进行了线性混合分析和Bonferroni值校正。
与HC相比，FRDA基线和随访患者的BCVA、VF和OCT参数在统计学上有显著下降。一些VF测量值和大多数OCT参数与SARA呈轻度至重度负相关。此外，ROC曲线分析表明，视乳头周围视网膜神经纤维层（pRNFL）平均厚度是区分FRDA患者和HC的最佳参数。
随访研究显示OCT参数有进展。研究结果显示pRNFL、神经节细胞复合体（GCC）和黄斑有顺序性影响。VF和OCT可能是FRDA中有用的生物标志物，这既因为它们与神经疾病的相关性，也因为它们评估疾病进展的能力。
