Okulo-zerebrale Dysplasie: Aplasia nervi optici sowie familiärer Mikr- und Kryptophthalmus

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Abstract
Two siblings with severe malformations of the eyes are reported. One, a 16-yr-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-yr-old brother has unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus. In a computerized 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 suggests an autosomal-recessive mode of inheritance.

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