Oswald A H, Goldblatt J, Sampson G, Clokie R, Beighton P
S Afr Med J. 1985 Dec 7;68(12):863-6.
Retinitis pigmentosa (RP), the commonest inherited form of blindness, is a heterogeneous condition which usually manifests as an isolated abnormality, but is occasionally a component of various rare syndromes. The basic defect in RP is unknown, but the recent molecular genetic discovery of linkage with a restriction fragment length polymorphism in X-linked RP offers the potential for carrier screening and antenatal diagnosis of this form of the disorder. In this article we present an overview of RP and an analysis of our findings from a questionnaire survey of 130 affected individuals in 63 families in the Cape Province and Natal. The proportions of the different genetic types of RP were generally in accordance with those found in overseas studies, being 14% autosomal dominant, 9,5% autosomal recessive and 6% X-linked recessive. A further 35% of the affected persons had RP together with other syndromic stigmata, while the remaining 35% could not be classified into any specific genetic category.
色素性视网膜炎（RP）是最常见的遗传性失明形式，是一种异质性疾病，通常表现为孤立的异常，但偶尔也是各种罕见综合征的一个组成部分。RP的基本缺陷尚不清楚，但最近在X连锁RP中发现与限制性片段长度多态性存在连锁关系的分子遗传学研究成果，为这种疾病形式的携带者筛查和产前诊断提供了可能。在本文中，我们对RP进行了概述，并对我们对开普省和纳塔尔63个家庭中130名患者的问卷调查结果进行了分析。RP不同遗传类型的比例总体上与海外研究结果一致，其中常染色体显性遗传占14%，常染色体隐性遗传占9.5%，X连锁隐性遗传占6%。另外35%的患者患有RP并伴有其他综合征体征，其余35%无法归类到任何特定的遗传类别。
