X-LINKED RETINITIS PIGMENTOSA
X-LINKED RETINITIS PIGMENTOSA
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DOI：
10.1136/bjo.59.4.177
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发表时间：
1975-01-01
影响因子：
4.1
通讯作者：
BIRD, AC
中科院分区：
文献类型：
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作者：
BIRD, AC
在连续107例遗传决定的视网膜色素变性患者中，23例被暂时诊断为遗传了该疾病。我们对42名男性患者和61名女性患者进行了检查，根据所获得的数据得出以下结论：(1)存在x -联性视网膜色素变性，并且与脉络膜血症不同。(2)与以往调查结果相反，x连锁色素性视网膜炎是这种疾病的一种常见形式，超过20%的色素性视网膜炎可能以x连锁方式传播。(3) (a)与以往研究者的发现相反，大多数（如果不是全部的话）成年杂合雌性在眼底有可检测到的退行性改变。(b)杂合子雌性的眼部变化最容易通过眼底检查、视野测试、暗适应测量和视网膜视紫红质浓度估计来检测。最常见的异常是外周视网膜色素上皮萎缩，这在所有成年杂合雌性中都有发现。(c)杂合子女性视网膜功能障碍的模式，特别是眼部电反应的保留，表明女性的疾病与男性的疾病和其他遗传形式的色素性视网膜炎在质量上不同。有证据表明，杂合子女性的疾病是斑片状的。(d)杂合子雌性的变性通常是对称的，但在年龄相近的杂合子中，变性的严重程度有很大差异。没有发现非遗传的影响可以解释这一点。没有证据表明x染色体失活在确定杂合女性表型中的重要性。(4)没有证据可以确定传播疾病的x连锁基因的数量。
Of 107 consecutive patients with genetically-determined retinitis pigmentosa, 23 were provisionally diagnosed as having inherited the disease in an X-linked fashion. 42 affected males and 61 females were examined, and from the data obtained the following conclusions were drawn: (1) X-linked retinitis pigmentosa exists and is distinct from choroideremia. (2) In contrast to the results of previous surveys, X-linked retinitis pigmentosa is a common form of this disease and over 20 per cent. of retinitis pigmentosa is probably transmitted in an X-linked manner. (3) (a) In contradistinction to the findings of previous investigators, most if not all adult heterozygous females have detectable degenerative changes in the ocular fundus. (b) The ocular changes in heterozygous females are most easily detected by fundus examination, visual field testing, dark adaptation measurements, and estimation of retinal rhodopsin concentration. The single most frequent abnormality is peripheral retinal pigment epithelial atrophy, which is found in all adult heterozygous females. (c) The pattern of retinal dysfunction in heterozygous females, and in particular preservation of the ocular electrical responses, suggests that the disease in women is qualitatively different from that in men and in other genetic forms of retinitis pigmentosa. There is some evidience that the disease in heterozygous women is patchy. (d) Degeneration in heterozygous females is usually symmetrical, but great variation was found in the severity of degeneration amongst heterozygotes of similar ages. No non-genetic influences were found to account for this. No evidence came to light by which the importance of X-chromosome inactivation could be assessed in determining the phenotype of heterozygous women. (4) No evidience is available to determine the number of X-linked genes transmitting the disease.