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由于遗传因素而巩膜发育不良,菲薄而透明,结果其深层色泽显露,巩膜呈现均匀的蓝色。本文报导同一家族十六例蓝巩膜症。其遗传系谱如图:从遗传系谱可以看出:本文十六例符合常染色体显性遗传规律,其显性基因的外显率是完全的,巩膜映显的蓝色程度则不一。文献报导遗传缺陷引起的间叶组织发育不全,蓝巩膜症多与骨脆、关节不全脱位、重听、耳聋、胳畸形、先天性心脏病等伴发。
Due to genetic factors and scleral dysplasia, meager and transparent, the results of its deep color revealed sclera uniform blue. This article reports the same family of 16 cases of blue sclera disease. The genetic lineages shown in Figure: From the genealogy spectrum can be seen: sixteen cases consistent with autosomal dominant genetic rule, the dominant gene penetrance is complete, blue sclera are not the same level. Reported genetic defects caused by mesenchymal hypoplasia hypoplasia, blue sclera and bone fragility and more, dislocation, severe hearing, hearing loss, deformity, congenital heart disease and other associated.