Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases

This is a report of seven new cases of microcephaly with chorioretinopathy. Three cases were sporadic and four were dominant: a father and son, and a father and daughter. Their ophthalmological, neurological, and systemic findings are discussed as are the genetics of the syndrome. Chorioretinopathy with characteristic punched-out lesions was observed in both entities. Body height emerges as a possible distinguishing feature between the dominant and recessive forms. In addition, locomotor disturbances are more frequently seen in patients with the recessive form.