Microphthalmia, Syndromic 9

Background and History: 

In rare cases the eye does not grow to its normal size during embryological development, leading to a condition called microphthalmia.  Sometimes there is only malformed eye tissue present and when no actual eye is visible it is called clinical anophthalmia.  Even more rarely, the eye tissue fails to develop at all but this is associated with other brain maldevelopment which is usually incompatible with life.

Clinical Correlations: 

This is a condition in which the eyes are very small or not clinically visible at all.  It is associated with other malformations of the heart, kidneys and lungs.  Often the first sign of the syndrome is evident as difficulty in breathing right after birth as the result of underdevelopment of the lungs.  Hernias of the diaphragm are often present as well.  The chin may be small, the base of the nose is small, the ears are low-set, and the skull may be shortened.  Sometimes the eyebrows appear to be high and slanted upward.



This is an autosomal recessive disorder caused by mutations in a gene.  Usually both parents, who are clinically normal, carry a single dose of the mutations and when their child inherits a copy from both it may have this disorder.  Such parents can expect that 25% of their children will inherit this disorder.

Diagnosis and Prognosis: 

The prognosis is poor.  Although some will die in infancy due to the severe nature of the lung and heart defects, some have been known to live for a decade.   The diagnosis requires a multidisciplinary team.  Depending upon the severity of the malformations, surgical correction is sometimes possible.

Additional Information