Red-green color vision impairment in Duchenne muscular dystrophy
Red-green color vision impairment in Duchenne muscular dystrophy
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DOI：
10.1086/518127
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发表时间：
2007-06-01
影响因子：
9.8
通讯作者：
Ventura, Dora Fix
中科院分区：
文献类型：
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作者：
Costa, Marcelo Fernandes;Oliveira, Andre Gustavo Fernandes;Ventura, Dora Fix
本研究评估了44例杜氏肌营养不良症（DMD）患者（平均年龄14.8岁; SD 4.9）的色觉，这些患者接受了一组四种不同的色觉测试：剑桥色觉测试（CCT）、Neitz色觉异常镜、Ishihara色觉测试和美国光学Hardy-Rand-Rittler色觉测试（AO H-R-R）。根据肌营养不良蛋白基因的缺失区域将患者分为两组：外显子30上游（n = 12）和外显子30下游（n = 32）。对照组为70例年龄匹配的无眼科主诉的健康男性受试者。在DMD患者中，47%（21/44）的CCT存在红绿色觉缺陷，经Neitz色觉异常镜证实，具有统计学一致性（P <0.001）。Ishihara和AO H-R-R检测颜色缺陷的能力较低，分别为-5%和7%，这两种测试的结果之间以及CCT和Anomaloscope结果之间没有统计学相似性（P <0.05）。在30号外显子下游缺失的患者中，66%的患者有红绿色缺陷。30号外显子上游缺失的患者无颜色缺陷。对照组和DMD患者的颜色阈值与年龄呈负相关，提示非进行性颜色缺陷。红-绿色缺损患者的百分比（66%）显著高于正常男性人群预期的< 10%（P < .001）。相比之下，外显子30上游缺失的DMD患者色觉正常。这种颜色缺陷可能部分解释了视网膜损伤相关的肌营养不良蛋白亚型Dp 260。
The present study evaluated the color vision of 44 patients with Duchenne muscular dystrophy (DMD) (mean age 14.8 years; SD 4.9) who were submitted to a battery of four different color tests: Cambridge Colour Test (CCT), Neitz Anomaloscope, Ishihara, and American Optical Hardy-Rand-Rittler (AO H-R-R). Patients were divided into two groups according to the region of deletion in the dystrophin gene: upstream of exon 30 (n = 12) and downstream of exon 30 (n = 32). The control group was composed of 70 age-matched healthy male subjects with no ophthalmological complaints plaints. Of the patients with DMD, 47% (21/44) had a red-green color vision defect in the CCT, confirmed by the Neitz Anomaloscope with statistical agreement (P < .001). The Ishihara and the AO H-R-R had a lower capacity to detect color defects -5% and 7%, respectively, with no statistical similarity between the results of these two tests nor between CCT and Anomaloscope results (P < .05). Of the patients with deletion downstream of exon 30, 66% had a red-green color defect. No color defect was found in the patients with deletion upstream of exon 30. A negative correlation between the color thresholds and age was found for the controls and patients with DMD, suggesting a nonprogressive color defect. The percentage (66%) of patients with a red- green defect was significantly higher than the expected < 10% for the normal male population (P < .001). In contrast, patients with DMD with deletion upstream of exon 30 had normal color vision. This color defect might be partially explained by a retina impairment related to dystrophin isoform Dp260.