Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4 (ABCR) gene
Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4 (ABCR) gene
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DOI：
10.1006/exer.2001.1093
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发表时间：
2001-12-01
影响因子：
3.4
通讯作者：
Travis, GH
中科院分区：
文献类型：
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作者：
Birch, DG;Peters, AY;Travis, GH
ABCA 4（ABCR）基因突变导致常染色体隐性Stargardt病（STGD）。通过对40例患者的所有50个外显子进行直接测序，在锥-杆营养不良（CRD）和视网膜色素变性（RP）患者中鉴定了ABCR突变。在10例RP患者中，1例包含两个ABCR突变，提示复合杂合子。该患者具有特征性眼底表现，血管变细，苍白盘和骨针色素沉着。视杆细胞视网膜电图（ERG）检测不到，视锥细胞ERG的振幅大大降低，隐式时间延迟，视野缩小至直径100度。30例CRD患者中有11例（37%）存在ABCR突变，这些患者表现为视杆细胞ERG反应降低但可检测到，视锥细胞反应降低和延迟，视力差。视杆细胞对高强度闪光的光反应的最大振幅降低，但光转导增益显示正常值。大多数具有ABCR突变的CRD患者在暴露于强光后表现出延迟的敏感性恢复（暗适应）。这些患者的瞳孔也显着小于对照组在30分钟后曝光，由于暂时确定的“嘈杂”的光产物的积累与持久的“等效光”的背景一致。(C)北京：科学出版社.
Mutations in the ABCA4 (ABCR) gene cause autosomal recessive Stargardt disease (STGD). ABCR mutations were identified in patients with cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) by direct sequencing of all 50 exons in 40 patients. Of 10 patients with RP, one contained two ABCR mutations suggesting a compound heterozygote. This patient had a characteristic fundus appearance with attenuated vessels, pale disks and bone-spicule pigmentation. Rod electroretinograms (ERGs) were non-detectable, cone ERGs were greatly reduced in amplitude and delayed in implicit time and visual fields were constricted to 10degrees diameter. Eleven of 30 (37%) patients with CRD had mutations in ABCR in general, these patients showed reduced but detectable rod ERG responses, reduced and delayed cone responses, and poor visual acuity. Rod photoresponses to high intensity flashes were of reduced maximum amplitude but showed normal values for the gain of phototransduction. Most CRD patients with mutations in ABCR showed delayed recovery of sensitivity (dark adaptation) following exposure to bright light. Pupils were also significantly smaller in these patients compared to controls at 30 min following light exposure, consistent with a persistent 'equivalent light' background due to the accumulation of a tentatively identified 'noisy' photoproduct. (C) 2001 Academic Press.