Pearce W G
Can J Ophthalmol. 1986 Dec;21(7):291-4.
Peripheral corneal opacification in the line of closure of the embryonic fissure associated with hyperopic astigmatism and anisometropic amblyopia was identified in two eyes of two members of a family with isolated autosomal dominant coloboma-microphthalmos. A review of the literature disclosed no previously reported cases. It would appear that the gene for isolated coloboma-microphthalmos can affect the growth and differentiation of mesenchymal cells of neural crest origin, as well as the neuroectodermal tissues of the embryonic fissure.
在一个患有孤立性常染色体显性遗传性缺损-小眼症的家族中，两名成员的两只眼睛出现了与远视散光和屈光参差性弱视相关的胚胎裂闭合处周边角膜混浊。文献回顾未发现此前有相关病例报道。似乎孤立性缺损-小眼症基因可影响神经嵴来源的间充质细胞以及胚胎裂的神经外胚层组织的生长和分化。
