Background: Congenital central hypoventilation syndrome (CCHS) is a rare cause of central sleep apnea. Although ophthalmic abnormalities have been reported, the ocular findings have not been discussed in detail.
Methods: We examined or obtained the records of 37 children with CCHS.
Results: Twenty-seven patients were found to have abnormal pupils, most of which were miotic and reacted poorly to light. In 18 cases, the anterior surface of the iris was unusually smooth. Ten of the children with abnormal pupils also demonstrated light-near dissociation. Twenty had strabismus of various types, and 18 showed evidence of convergence insufficiency.
Conclusions: The high incidence of strabismus, pupillary abnormalities, and convergence insufficiency may be a result of neurologic defects in the midbrain.