Congenital cataract-anterior segment dysgenesis syndrome

Definition

A rare genetic ophthalmic syndrome characterized by congenital progressive posterior cataract (usually bilateral) and anterior segment mesenchymal dysgenesis that can be associated with unilateral or bilateral glaucoma (either congenital or develop at a young age). Some patients may present only with cataracts. Microcornia (sometimes bilateral), corneal opacities including posterior embryotoxon, iris atrophy/iridocorneal adhesions and nystagmus are reported as additional clinical features in some patients.