Supplementary Material for: Colour Vision in Stargardt Disease

<b><i>Purpose:</i></b> To investigate the type and severity of acquired colour vision deficiencies (CVDs) in molecularly proven Stargardt disease (STD) and to establish whether a relationship exists between best-corrected visual acuity (BCVA) and full-field electroretinography (ffERG), and the degree of CVD. <b><i>Methods:</i></b> A retrospective, cross-sectional study of 73 patients with a molecularly proven diagnosis of STD, who underwent extensive colour vision evaluation, using pseudo-isochromatic and arrangement tests. Thirteen patients underwent Nagel anomaloscopy. <b><i>Results:</i></b> Normal colour vision was found in almost 20% of patients. Red/green (R/G) CVDs increased as BCVA declined. About 45% of all R/G CVDs were of the deutan type, although protan type CVDs became progressively apparent when moving from the high to the low BCVA group. An additional blue/yellow CVD was noted in about 25% of patients. In 10/13 patients, a pseudoprotanomaly was noted on anomaloscopy. Severe CVDs leading to scotopization were noted in patients with low BCVA and/or long-standing disease. No statistically significant differences in ERG results were found between groups with or without a CVD. <b><i>Conclusions:</i></b> The degree and type of colour vision deficiency in STD patients correlate better with BCVA than with ffERG results. The presence of specific CVDs may help to establish a diagnosis of STD. A battery of colour vision tests is required to properly evaluate CVDs in STD.

**研究目的：** 旨在探究经分子学确诊的斯塔加特病（Stargardt disease, STD）患者的获得性色觉异常（colour vision deficiencies, CVDs）类型与严重程度，并明确最佳矫正视力（best-corrected visual acuity, BCVA）、全视野视网膜电图（full-field electroretinography, ffERG）与色觉异常程度之间是否存在关联。
**研究方法：** 本研究为回顾性横断面研究，纳入73例经分子学确诊为斯塔加特病的患者，所有受试者均接受了涵盖假同色性测试与排列测试的全面色觉评估；其中13例患者接受了纳格尔色盲镜（Nagel anomaloscopy）检查。
**研究结果：** 近20%的患者表现为正常色觉。红绿色（R/G）色觉异常的发生率随最佳矫正视力下降而升高。约45%的红绿色觉异常为绿色盲型（deutan type），而红色盲型（protan type）色觉异常在从高视力组向低视力组过渡时逐渐增多。约25%的患者额外出现蓝黄色（blue/yellow）色觉异常。在13例接受色盲镜检查的患者中，有10例被检出假性红色色弱（pseudoprotanomaly）。在视力较差且/或病程较长的患者中，可见引发色觉暗化（scotopization）的重度色觉异常。伴或不伴色觉异常的两组患者之间，全视野视网膜电图结果无统计学显著差异。
**研究结论：** 斯塔加特病患者的色觉异常程度与类型与最佳矫正视力的相关性优于与全视野视网膜电图结果的相关性。特定类型的色觉异常或可辅助斯塔加特病的诊断。若要准确评估斯塔加特病患者的色觉异常，需采用一套完整的色觉测试组合。