Microphthalmia, Syndromic 4

Clinical Characteristics
Ocular Features: 

In several generations of an Irish family, 7 males with clinical anophthalmia were identified.  Ankyloblepharon was also present and X-rays of the orbits were identified.

Systemic Features: 

One patient was born with a cleft soft palate and had preauricular skin tags.  All individuals were considered to be mentally retarded with IQ's less than 50.


MCOPS4 is an X-linked condition based on a single reported family.  The responsible mutation has not been identified but a locus (Xq27-q28) likely to contain the gene has been identified by multipoint linage analysis.

Treatment Options: 

No treatment is known.

Article Title: 


Graham CA, Redmond RM, Nevin NC. X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28. Ophthalmic Paediatr Genet. 1991 Mar;12(1):43-8.

PubMedID: 1679229