Jerndal T
Am J Hum Genet. 1983 Jul;35(4):645-51.
Three typical pedigrees with hereditary glaucoma are presented, in which dominant goniodysgenesis is shown to be the actual genetic trait. Because of a marked variation in the expressivity of dysgenesis, the symptoms of the genetic malformation (elevated intraocular pressure and subsequent glaucoma) may appear early or late in life. Therefore, there is no justification in letting the patient's age at the onset of the symptoms decide the classification or the mode of inheritance of the glaucoma (infantile, juvenile, simple), when the common etiologic factor is a dominant dysgenic trait. Consequently, the term "congenital glaucoma" is inadequate and even misleading for glaucoma caused by an inborn malformation, but which may be manifested only after several years or even decades. Instead a new term "dysgenic glaucoma" is suggested as the logical term that also indicates the etiology.
本文展示了三个典型的遗传性青光眼家系,其中显性前房角发育异常被证明是实际的遗传特征。由于发育异常的表达存在显著差异,这种基因畸形的症状(眼压升高及随后的青光眼)可能在生命早期或晚期出现。因此,当共同的病因是显性发育异常特征时,仅根据症状出现时患者的年龄来决定青光眼的分类或遗传方式(婴儿型、青少年型、单纯型)是不合理的。因此,“先天性青光眼”这一术语对于由先天性畸形引起但可能在数年甚至数十年后才表现出来的青光眼而言并不恰当,甚至具有误导性。相反,建议使用一个新术语“发育异常性青光眼”,这一术语符合逻辑,也表明了病因。