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.