是否有可能对色素视网膜病变进行遗传咨询?

N Segal
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引用次数: 0

摘要

作者试图改变今天仍然流行的观点,即任何色素视网膜病变都可能对后代造成障碍。色素视网膜病变可能有多种病因——遗传性、性别连锁、显性常染色体或隐性常染色体、代谢性、各种粘多糖病、继发性炎症或创伤后。遗传传播的讨论,回顾孤立的情况下,经验计算H.毛梅尼在1000个瑞士家庭。遗传咨询与其他医学预后一样,必须成为临床医学实践的重要组成部分。遗传方面的建议必须建立在对患者及其家属充分了解的基础上,但最终决定权仍在患者家属手中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Is it possible to give genetic counseling in pigmentary retinopathy?].

The author tries to change the opinion still prevailing today according to which any pigmentary retinopathy may represent a handicap to the descendants. Pigmentary retinopathy may have several etiologies--hereditary, sex-linked, dominant autosomal or recessive autosomal, metabolic, within the framework of various mucopolysaccharidoses, secondary post inflammatory or post traumatic. Hereditary transmission is discussed recalling for isolated cases the empirical calculus of H. Maumenee on 1000 Swiss families. Genetic advice, the same as other medical prognosis must form integral part of clinical medical practice. Genetic advice must be based on perfect knowledge of the patient and his family, yet the final decision remains with the family.

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