[Oculo-cerebral dysplasia: aplasia of the optic nerve with familial microphthalmos and cryptophthalmus. Clinical and computer tomography study].
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.
D000293:Adolescent; D002526:Cerebellar Diseases / Q000150:complications; D003560:Cysts / Q000150:complications; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000150:complications*; D009900:Optic Nerve / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Okulo-zerebrale Dysplasie: Aplasia nervi optici sowie familiärer Mikr- und Kryptophthalamus. Eine klinische und computertomographische Untersuchung.