Chorioretinal dysplasia, microcephaly, and mental retardation

Background and History: 

This seems to be an inherited disorder that is one of several with a combination of below average head size and eye abnormalities.  Like the others, this one is rather ill-defined and further work is required before we can be certain of its uniqueness.

Clinical Correlations: 

The reduction in head size is highly variable among patients and often minimal.  A few patients have been described to have ‘bulging’ foreheads.  Many individuals have delays in psychomotor development and some have severe mental retardation.

The eyes may be abnormally small also.  The retina has areas of abnormal pigmentation and folds have been seen in some patients.  The retina may also have localized detachments.  At least one patient among the few families reported had cataracts and glaucoma as well 


Based on the small number of family pedigrees reported, this disorder seems to be inherited in an autosomal dominant pattern.  However, no specific gene mutation has been found to cause this condition.  Affected parents may transmit the responsible mutation to half of their children.

Diagnosis and Prognosis: 

The diagnosis requires a collaborative effort on the part of ophthalmologists, neurologists, and pediatricians.  Prognosis is highly variable depending upon how severe the microcephaly and retinal problems are.  Special education and low vision aids could be helpful

Additional Information
Autosomal dominant