98th Annual Meeting DOG 2000

P 17

Microcephaly-microphthalmos and retinal folds-syndrome - a case report

M. Hacker, C. Rosenkranz, K. Vanselow, R. König, A. Zubcov-Iwantscheff, N. Stärk

Background: Microcephaly-microphthalmos-and retinal folds-syndrome is a very seldom, autosomal dominant disease, the first report dates back to 1981 by Jamas. So far only 5 cases have been reported in the literature.

Case report: A two month old microcephalic female baby showed no steady fixation in her right eye. Under anesthesia ophthalmologic exam revealed a corneal diameter in the right eye of 9.0 and in the left eye of 10.0 mm. On funduscopy the right eye showed a falciform retinal fold between the optic nerve and the peripheral temporal retina. The periphery of the retina showed circularly pigment clumps. In the left eye stretched retinal vessels and peripheral areals of chorioatrophy were seen. The axial length of the right eye measured 16.0 mm (microphthalmos) and of the left eye 17.9 mm (normal value).

The examination of the mother of the baby showed in the right eye pseudophakia (s/p cong. cataract operation) and a very similar fundus appearance: falciform retinal folds between the optic nerve and the peripheral temporal retina. Circularly the peripheral retina showed areas of chorioatrophy. The left eye was found to be normal. The grandmother from mother’s side, the father and her brother displayed no eye pathology.

Conclusion: The autosomal dominant Microcephaly-microphthalmos-and retinal folds-syndrome is a very seldom disease with various gene penetrance which should always be considered as a cause of microphthalmos when combined with microcephaly.

University Eye Hospital, Johann Wolfgang Goethe University, Theodor-Stern-Kai 7, D - 60590 Frankfurt/Main



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