Nanophthalmos 3

Clinical Characteristics
Ocular Features: 

A six generation Chinese family has been reported in which 12 affected members had small eyes, ptosis, apparent enophthalmos, shallow anterior chambers, and small corneas.  Hyperopic refractive errors ranged from +6.00 to +11.25 (mean +8.25).  

Systemic Features: 

None reported.


The transmission pattern for this 6 generation family strongly suggests autosomal dominant inheritance.  No mutation has been identified but the 2q11-14 locus is strongly associated with the phenotype.

Treatment Options: 

Treatment has not been reported but monitoring for narrow angle glaucoma is advised.

Article Title: 


Li H, Wang JX, Wang CY, Yu P, Zhou Q, Chen YG, Zhao LH, Zhang YP. Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14. Hum Genet. 2008 Jan;122(6):589-93.

PubMedID: 17924146