Behrens-Baumann W, Dust G, Rittmeier K, Langenbeck U, Vogel M
Klin Monbl Augenheilkd. 1981 Aug;179(2):90-3. doi: 10.1055/s-2008-1057268.
The authors report on two siblings with severe malformations of the eyes. The 16-year-old girl has bilateral microphthalmus with aplasia of the right optic nerve and a Dandy-Walker cyst of the cerebellum. The right eye has no optic disk or retinal vessels. Her 13-year-old brother has unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus. In a computer tomography examination no optic nerve could be demonstrated on the left. The presence of an oculocerebral dysplasia in a brother and sister with healthy parents suggest an autosomal-recessive mode of inheritance of the aplasia of the optic nerve with microphthalmus and/or cryptophthalmus.
作者报告了两名患有严重眼部畸形的兄弟姐妹。16岁女孩患有双侧小眼畸形，右侧视神经发育不全，小脑有丹迪-沃克囊肿。右眼没有视盘或视网膜血管。她13岁的弟弟患有单侧视神经发育不全，伴有隐眼畸形和对侧小眼畸形。在计算机断层扫描检查中，左侧未显示视神经。在父母健康的一对兄弟姐妹中出现眼脑发育异常，提示视神经发育不全伴小眼畸形和/或隐眼畸形以常染色体隐性模式遗传。
