short axial length

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.

Genetics

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.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

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

References
Article Title: 

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
Article Title: 
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