Ravine D, Ragge N K, Stephens D, Oldridge M, Wilkie A O
Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom.
Am J Med Genet. 1997 Oct 17;72(2):227-36. doi: 10.1002/(sici)1096-8628(19971017)72:2<227::aid-ajmg19>3.0.co;2-p.
Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression is evident and more recently recognized manifestations include a complete spectrum of eye involvement, impairment of extraocular movement, mid-frequency sensorineural hearing loss, and hematuria. Learning difficulties requiring remedial teaching were present in one third of those affected and a neural tube defect has occurred in one presumed affected member. This family appears to present a unique phenotype, which provides an opportunity to identify a genetic locus involved in eye, ear, renal, primary palate, and brain development.
眼裂和小眼症，无论是孤立出现还是作为综合征的一部分，通常都是散发的，仅在大家族中罕见。对一个四代家族进行了重新评估，该家族患有常染色体显性葡萄膜缺损和小眼症，并伴有唇腭裂。表达的广泛变异性很明显，最近认识到的表现包括眼部受累的全谱、眼外肌运动障碍、中频感音神经性听力损失和血尿。三分之一的患者存在需要补习教学的学习困难，并且在一名疑似患病成员中出现了神经管缺陷。这个家族似乎呈现出一种独特的表型，这为确定参与眼睛、耳朵、肾脏、原发腭和大脑发育的基因位点提供了机会。
