Microphthalmia, Syndromic 10

Background and History: 

Syndromic microphthalmia 10 is one of numerous inherited conditions in which the eye is small and does not develop normally.  The brain is involved in this disorder as well.

Clinical Correlations: 

The skull is small from birth.  The eyes can be extremely small as well and patients are likely blind although actual vision has not been reported.  Psychomotor development is normal for the first 6 to 8 months of life but there is rapid deterioration in neurological function subsequently.  Irritability, vomiting, constant crying, and spasticity become evident.  The MRI reveals progressive loss of brain matter by 1 year of age which eventually leads to absence of all while matter of the brain with patients becoming completely dependent.  Longevity is unknown but one reported patient was alive at 8 years of age.


Based on a report of three interrelated Pakistani families each with one affected child, it is likely that this is an autosomal recessive disorder but no mutation has been found.  Parents with a child having this disorder  can expect that each of their children have a 25% risk of inheriting the same disease.

Diagnosis and Prognosis: 

Pediatricians, ophthalmologists, and neurologists are most likely to collaboratively diagnose this condition.  No treatment is available.

Additional Information
Autosomal recessive