[Oculo-cerebral dysplasia: aplasia of the optic nerve with familial microphthalmos and cryptophthalmus. Clinical and computer tomography study].

Abstract

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.

• Authors: W Behrens-Baumann, G Dust, K Rittmeier, U Langenbeck, M Vogel
• Journal: Klinische Monatsblatter fur Augenheilkunde (Klin Monbl Augenheilkd) Vol. 179 Issue 2 Pg. 90-3 (Aug 1981) ISSN: 0023-2165 [Print] Germany
• Vernacular Title: Okulo-zerebrale Dysplasie: Aplasia nervi optici sowie familiärer Mikr- und Kryptophthalamus. Eine klinische und computertomographische Untersuchung.
• PMID: 6813561 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Adolescent
• Cerebellar Diseases (complications)
• Cysts (complications)
• Eye Abnormalities
• Female
• Humans
• Male
• Microphthalmos (complications)
• Optic Nerve (abnormalities)
• Syndrome
• Tomography, X-Ray Computed