Progressive cone-rod degeneration.
Progressive cone-rod degeneration.
复制标题
进行性锥杆变性。
DOI：
10.1001/archopht.1968.00980050070010
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发表时间：
1968
影响因子：
--
通讯作者：
R. Gunkel
中科院分区：
文献类型：
--
作者：
E. Berson;P. Gouras;R. Gunkel
三个成人黄斑功能障碍和周围色素视网膜变性被描述为一个临床实体称为进行性锥体杆变性，基于他们的心理物理和电生理的发现。这些患者视力下降，色觉异常，单相黑暗适应曲线伴视杆阈值轻微升高，视网膜电图（ERG）视杆成分减少，视锥成分明显减少或缺失。幽暗亮度曲线和幽暗平衡光下的ERGs显示紫红质具有正常的吸收光谱。锥杆变性与显性遗传性视网膜色素变性是有区别的，尽管两者都与骨针状色素沉着和视网膜小动脉衰减有关。提出了一种隐性遗传模式，并讨论了锥杆变性与劳伦斯-月亮-比德尔综合征视网膜表现的关系。
Three adults with macular dysfunction and peripheral pigmentary retinal degeneration are described as one clinical entity called progressive cone-rod degeneration, based on their psychophysical and electrophysiological findings. These patients had diminishing visual acuity, abnormal color vision, monophasic dark-adaptation curves with slightly elevated rod thresholds, and markedly decreased or absent cone components in the presence of reduced rod components in the electroretinogram (ERG). Scotopic luminosity curves and ERGs with scotopically balanced lights suggest that the rhodopsin present has a normal absorption spectrum. Cone-rod degeneration is differentiated from dominanty inherited retinitis pigmentosa although both are associated with bone spicule pigmentation and retinal arteriolar attenuation. A recessive mode of inheritance is suggested, and the relationship of cone-rod degeneration to the retinal manifestations of the Laurence-Moon-Biedl syndrome is discussed.