Duker J S, Weiss J S, Siber M, Bieber F R, Albert D M
Am J Ophthalmol. 1985 Jan 15;99(1):51-5. doi: 10.1016/s0002-9394(14)75866-0.
We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities.
我们研究了四名相关男性患者的临床和组织病理学眼部表现，他们患有一种新发现的综合征，其特征包括小眼畸形、小头畸形、智力发育迟缓、胼胝体发育不全、尿道下裂和隐睾症，呈X连锁隐性遗传。眼部异常包括小眼畸形、角膜血管翳和发育不全、白内障、葡萄膜发育不全、视网膜发育异常、视神经发育不全和先天性上睑下垂。在病例4中，一名死于子宫内（妊娠15周时）的女性双胞胎未表现出任何眼部异常。
