Aphakia, Congenital Primary Clinical CharacteristicsOcular 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. GeneticsHomozygosity 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). Pedigree: Autosomal recessiveTreatmentTreatment Options: No treatment is known to restore vision. ReferencesArticle Title: Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans 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. PubMed ID: 16826526 Congenital aphakia: a clinicopathologic report of three cases Johnson BL, Cheng KP. Congenital aphakia: a clinicopathologic report of three cases. J Pediatr Ophthalmol Strabismus. 1997 Jan-Feb;34(1):35-9. PubMed ID: 9027678 Read more about Aphakia, Congenital Primary
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans 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. PubMed ID: 16826526
Congenital aphakia: a clinicopathologic report of three cases Johnson BL, Cheng KP. Congenital aphakia: a clinicopathologic report of three cases. J Pediatr Ophthalmol Strabismus. 1997 Jan-Feb;34(1):35-9. PubMed ID: 9027678
