Microphthalmia, Syndromic 4

Background and History: 

Microphthalmia (small eyes) may be so severe that no eye tissue is visible (clinical anophthalmia) as in this disorder.

Clinical Correlations: 

A single family with this condition has been reported in 7 males in 2 generations.  The eyelids were fused together and X-rays revealed the bony orbits to be underdeveloped, consistent with the lack of eye tissue. No vision is present.  All affected males were mentally retarded as well.  One individual also had a partial cleft palate.


No responsible gene mutation has been found but a region (locus) on the X-chromosome likely to contain the gene has been identified.  The pedigree and the pattern of transmission are consistent with X-linked inheritance.  Thus, only males have this condition and would not have affected children.  Women who carry the mutation are clinically normal but can expect that half of their male offspring will have microphthalmia.  In view of the clinical severity (mental retardation) it is unlikely that affected males will have offspring.

Diagnosis and Prognosis: 

Pediatricians and ophthalmologists are likely to collaborate in the diagnosis and care of affected children.  No treatment is available for this disorder and nothing is known regarding longevity.

Additional Information
X-linked recessive, carrier mother