Microphthalmos, Dandy-Walker anomaly, and ocular anomalies
(optic disc atrophy, lid adhesion, and/or ankyloblepharon).
Two sibs have been described.
Autosomal recessive inheritance was suggested.
A 16-year-old girl with bilateral microphthalmos,
aplasia of the right optic nerve, and a large cerebellar Dandy-Walker cyst
was described. She was mentally normal, and no clinical consequences from
the Dandy-Walker cyst were mentioned. Her 13-year-old brother had unilateral
optic nerve aplasia with ipsilateral cryptophthalmus and contralateral
microphthalmos. He suffered from significant mental retardation.
If a Dandy-Walker malformation is
present with signs of compression and increased intracranial pressure, a
lumbar puncture for spinal anesthesia is contraindicated and anesthetic
management must address the problem of raised intracranial pressure.
Adequate anxiolysis is often helpful in the management of mentally delayed
patients, but in the presence of increased intracranial pressure may have
more adverse than beneficial effects. No other specific anesthetic implications
are expected from the described ophthalmologic features.
Behrens-Baumann W, Dust G, Rittmeier K, et al: Oculo-cerebral dysplasia:
Aplasia of the optic nerve with familial microphthalmos and cryptophthalmos.
Clinical and computer tomography study. Klin Monatsbl Augenheilkd