NNO1

Nanophthalmos 1

Clinical Characteristics
Ocular Features: 

The axial length ranges from 17.55 to 19.28 mm with a mean of 18.13 mm.  The mean refractive error was +9.88 in one reported family but ranged from +7.25 to +13.00.  More than half of reported patients have developed angle closure glaucoma.  Patients are at risk for strabismus and amblyopia.  Choroidal detachments are often seen in nanophthalmic eyes.

Histological studies on full thickness sclerotomy tissue from a nanophthalmic eye showed frayed and split collagen fibrils with lightly stained cores predominantly in the sclera and episcleral regions which may contribute to the anatomical changes.

Systemic Features: 

None have been reported.

Genetics

No mutation has been described but this autosomal dominant condition maps to 11p.

Another type of autosomal dominant nanophthalmos (NNO3) (611897) maps to 2q22-q14, and yet another, nanophthalmos AD, results from mutations in TMEM98.

Nanophthalmos may also be inherited in an autosomal recessive pattern.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Lifelong monitoring is required because of the risk of angle closure.  Intraocular surgery such as lens extractions carries a high risk of complications.

References
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