Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4 (ABCR) gene

被引:52
作者
Birch, DG
Peters, AY
Locke, KL
Spencer, R
Megarity, CF
Travis, GH
机构
[1] Retina Fdn SW, Dallas, TX 75231 USA
[2] Univ Texas, SW Med Ctr, Dept Ophthalmol, Dallas, TX 75390 USA
[3] Univ Texas, SW Med Ctr, Ctr Basic Neurosci, Dallas, TX 75390 USA
[4] Univ Calif Los Angeles, Sch Med, Dept Ophthalmol, Los Angeles, CA 90095 USA
[5] Univ Calif Los Angeles, Sch Med, Dept Biol Chem, Los Angeles, CA 90095 USA
关键词
ABCR; ABCA4; cone-rod dystrophy; retinitis pigmentosa; retinal degeneration; electroretinogram; dark adaptation;
D O I
10.1006/exer.2001.1093
中图分类号
R77 [眼科学];
学科分类号
100212 [眼科学];
摘要
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.
引用
收藏
页码:877 / 886
页数:10
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