CTPP

Cataracts, Congenital, Posterior Polar

Clinical Characteristics

Ocular Features:

Posterior polar cataracts are likely to occur congenitally but there is often a delay in detection until childhood or even adolescence. Many patients with a late diagnosis develop nystagmus and strabismus. Opacification usually begins bilaterally as disc-shaped plaques of opacification in the posterior polar region and progresses relatively rapidly to complete opacification. Some patients require lens surgery in the first year of life while others not until they are young adults.

Systemic Features:

This type of congenital cataract is not associated with systemic symptoms.

Genetics

Autosomal dominant posterior polar cataracts may result from mutations in the EPHA2 gene located at 1pter-p36.1. Interestingly, an area with a likely locus adjacent to but outside the coding region of this gene has been associated with age-related cataracts.

This type of lens opacity may be allelic to Volkmann cataract (115665).

Other forms of autosomal dominantly inherited, congenital, progressive lens opacities include congenital cerulean (115660, 601547, 608983, 610202), Coppock-like (604307), and lamellar (116800) cataracts. Due to clinical heterogeneity, it is not always possible to classify specific families based on the appearance and natural history of the lens opacities alone.

Pedigree:

Autosomal dominant

Treatment

Treatment Options:

Serial monitoring and timely surgery are important for the prevention of amblyopia, strabismus, and nystagmus.

References

Article Title:

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract

Reis LM, Tyler RC, Semina EV. Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract. Mol Vis. 2014 Jun 13;20:836-42.

PubMed ID:

24940039

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT, Luo Y, Zhang J, Zhang X. Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat. 2009 May;30(5):E603-11.

PubMed ID:

19306328

The EPHA2 gene is associated with cataracts linked to chromosome 1p

Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF. The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis. 2008;14:2042-55.

PubMed ID:

19005574

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