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.

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
Article Title: 

References

Othman MI, Sullivan SA, Skuta GL, Cockrell DA, Stringham HM, Downs CA, Fornes A, Mick A, Boehnke M, Vollrath D, Richards JE. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. Am J Hum Genet. 1998 Nov;63(5):1411-8..

PubMedID: 9792868

Yamani A, Wood I, Sugino I, Wanner M, Zarbin MA. Abnormal collagen fibrils in nanophthalmos: a clinical and histologic study. Am J Ophthalmol. 1999 Jan;127(1):106-8. Erratum in: Am J Ophthalmol 1999 May;127(5):635.

PubMedID: 9933017