Microphthalmia and Anophthalmia, ALDH1A3 Associated

Background and History: 

Many gene changes (mutations) lead to abnormally small (microphthalmia) or missing eyeballs (anophthalmia).  These may occur in association with malformations or disease in other parts of the body (syndromic) or they may occur by themselves (isolated).

Clinical Correlations: 

Patients are born with absence of one or both eyeballs or in other cases the eyes are abnormally small.  In some patients malformations called cysts are found in the orbit where the eye is normally located.  A few patients have heart or neurological disease.


This condition results from changes in a specific gene known as ALDH1A3 and is inherited in an autosomal recessive pattern.  Parents are usually related to each other (consanguineous marriages) and are clinically normal but carry the mutation in a single dose.  When both parents transmit the changed gene to a child (which occurs with a 25% probability), the double dose of changes leads to this condition.

Diagnosis and Prognosis: 

An ophthalmologist is usually the one to diagnose the full condition but the abnormal eyes may be evident to pediatricians at birth.  The abnormally formed eye(s) often do not function properly and no treatment is available to restore vision.  In other patients there may be some residual vision in which case low vision aids can be of help.

Additional Information
Autosomal recessive