Microphthalmia, Syndromic 8

Background and History: 

This is a rare disorder in which gross abnormalities of chromosomes have been identified in the majority of patients.  It is one of numerous disorders in which the eye is abnormally small

Clinical Correlations: 

In addition to the small eyes, the lid opening and the cornea can be small.  Blindness may be the result.  The skull is also small and mental retardation is usually present.  The complete clinical picture remains unknown since the number of reported cases is small.  Other reported abnormalities include heart defects, a prominent jaw, deformities of the feet, undescended testes, and cleft lip and palate. 


The majority of cases occur sporadically, i.e., without a family history of the disorder.  A chromosomal abnormality is usually present but in at least one patient a change in a specific gene was found.

Diagnosis and Prognosis: 

Blindness and mental retardation result in a poor prognosis.  The diagnosis is made collaboratively by ophthalmologists, pediatricians and geneticists.  No treatment is known.

Additional Information