nanophthalmia 3

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.

Autosomal dominant
Treatment Options: 

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

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