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常染色体显性遗传性原发性视网膜色素变性的两种类型。

Two forms of autosomal dominant primary retinitis pigmentosa.

作者信息

Massof R W, Finkelstein D

出版信息

Doc Ophthalmol. 1981 Nov;51(4):289-346. doi: 10.1007/BF00143336.

Abstract

Two types of autosomal dominant retinitis pigmentosa (RP) are identified on the basis of perimetric measures of rod sensitivity relative to cone sensitivity. Type 1 dominant RP patients are characterized by an early diffuse loss of rod sensitivity with a later loss of cone sensitivity and by childhood onset of night blindness. Type 2 dominant RP patients are characterized by a regionalized and combined loss of rod and cone sensitivity with adulthood onset of nightblindness. Comparisons of losses in the photopic and scotopic electroretinogram amplitudes corroborate the psychophysical results. Clinical findings are similar for the two dominant RP subtypes, however, there are differences in natural history.

摘要

根据视杆细胞敏感性相对于视锥细胞敏感性的视野测量结果,确定了两种常染色体显性遗传性视网膜色素变性(RP)。1型显性RP患者的特征是视杆细胞敏感性早期弥漫性丧失,随后视锥细胞敏感性丧失,且夜盲症在儿童期发病。2型显性RP患者的特征是视杆细胞和视锥细胞敏感性区域性联合丧失,且夜盲症在成年期发病。明视和暗视视网膜电图振幅损失的比较证实了这些心理物理学结果。两种显性RP亚型的临床发现相似,然而,它们在自然病史方面存在差异。

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