Small K W, Anderson W B
Department of Ophthalmology, Medical University of South Carolina, Charleston 29425-2236.
Arch Ophthalmol. 1991 Oct;109(10):1408-10. doi: 10.1001/archopht.1991.01080100088048.
We studied a 43-year-old woman affected with pigmented paravenous retinochoroidal atrophy and her unaffected monozygotic twin. The affected twin had stable visual acuity (20/25), typical fundus findings, markedly constricted visual fields, abnormal color vision, and an abnormal electroretinogram, all consistent with pigmented paravenous retinochoroidal atrophy. Results of examinations and studies in her twin were entirely normal. Fingerprinting for DNA performed on the twins strongly supported monozygosity. Our findings suggest that either our patient did not inherit pigmented paravenous retinochoroidal atrophy or that an unusual (nonmendelian) genetic mechanism occurred.
我们研究了一名患有色素性静脉旁视网膜脉络膜萎缩的43岁女性及其未患病的同卵双胞胎。患病的双胞胎视力稳定（20/25），眼底表现典型，视野明显缩小，色觉异常，视网膜电图异常，所有这些都与色素性静脉旁视网膜脉络膜萎缩相符。她双胞胎的检查和研究结果完全正常。对这对双胞胎进行的DNA指纹图谱分析有力地支持了同卵性。我们的研究结果表明，要么我们的患者没有遗传色素性静脉旁视网膜脉络膜萎缩，要么发生了一种不寻常的（非孟德尔式）遗传机制。
