Aphakia, Congenital Primary

Clinical Characteristics
Ocular Features: 

There is complete absence of the lens and with it aplasia of the anterior segment including complete absence of the iris, ciliary body, and trabecular meshwork.  In an autopsied case, the cornea was thinned and lacked endothelium, Bowman layer, and Descemet membrane while the retina was dysplastic.  In the single family reported, 2 sibs had sclerocornea and one had megalocornea.  Normal pressure was reported in several eyes but a single eye in one patient at the age of 3 years developed buphthalmos with elevated pressure.

Systemic Features: 

No systemic abnormalities have been reported.

Genetics

Homozygosity of a nonsense mutation in the FOXE3 transcription factor gene (1p32) seems to be responsible for this autosomal recessive disorder.  The same gene has been implicated in rare cases of Peters anomaly (604229) and in anterior segment mesenchymal dysgenesis (107250).

Treatment
Treatment Options: 

No treatment is known to restore vision.

References
Article Title: 

References

Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Am J Hum Genet. 2006 Aug;79(2):358-64.

PubMedID: 16826526

Johnson BL, Cheng KP. Congenital aphakia: a clinicopathologic report of three cases. J Pediatr Ophthalmol Strabismus. 1997 Jan-Feb;34(1):35-9.

PubMedID: 9027678