Chorioretinopathy with Microcephaly 1

Background and History: 

This is one of several ill-defined genetic conditions in which infants born with below average head size also have abnormal eye development.

Clinical Correlations: 

Below average head size of various degrees is a consistent feature.  The forehead is steeply sloped as well but the face generally is of normal size.  The hard palate is often highly arched.  Muscles in the limbs do no work properly and most individuals walk with a shuffling gait.  Children are highly social and often hyperactive to some degree.  Intelligence may be normal but most have some psychomotor delay.

The eye findings have not been well described.  The corneas (window of the eye) appear small and many individuals are far sighted.  The optic nerves are pale and the ERG (electroretinogram) is abnormal which explains the reduced vision found in many patients.  The retinas generally have some abnormal pigmentation as well.  Strabismus (crossing of the eyes) is common.



Only a few families have been reported but pedigrees suggest autosomal recessive inheritance in which both parents are normal but carry the mutation.  Such parents can expect that one out of four of their children will have some features of this syndrome.  No specific genetic mutation has been identified.

Diagnosis and Prognosis: 

The diagnosis is usually based on a collaborative effort by pediatricians, geneticists, neurologists, and ophthalmologists.  There is no specific treatment but physical therapy, special education, and low vision aids can be helpful.

Additional Information
Autosomal recessive