Nanophthalmos AD

Clinical Characteristics
Ocular Features: 

In the family reported, vision ranged from NLP to 20/20.  Refractive errors ranged from +8.25 to +15.50 D (mean +11.8 D).  Axial length ranged from 16.90 to 18.46 mm with a mean of 17.6 mm.  Angle closure glaucoma was diagnosed in 6 of 16 (37%) patients. Thickened sclera with prominent scleral vessels was described in affected family members.  Optic nerve drusen are often present and increased tortuosity of the retinal vessels has been described.

Systemic Features: 

No systemic abnormalities have been reported in spite of the fact that the TMEM98 gene is widely expressed in body tissues. 


This is an autosomal dominant disorder resulting from a missense mutation in exon 8 of the TMEM98 (17p12-q12) gene.  The mutation has been reported in a single Australian family.

Autosomal dominant
Treatment Options: 

Lens removal may be considered in individuals with shallow anterior chambers and narrow angles but frequent postoperative macular edema and choroidal effusions have been seen and the visual prognosis is guarded.

Article Title: 
Subscribe to RSS - TMEM98