Congenital cataracts are highly heterogeneous disorders at both the genetic and clinical-phenotypic levels.  They are one of the major causes of vision loss in children worldwide and are responsible for about one-third of cases of blindness in infants.  Cataracts can lead to permanent blindness by interfering with the sharp focus of light on the retina, especially during the early developmental periods.  They can be classified clinically according to the part of the opacified lens, including nuclear, cortical, lamellar, sutural, polar, or subcapsular cataract.  Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant.  This type of cataract progresses, it changes the eye's ability to focus, and close-up vision may temporarily improve.  Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens.  “Cataract 17, multiple types” includes nuclear and pulverulent cataracts, among others.

Mutations in the CTRCT17 gene, located on 22q12.1, have been found in patients with Cataract 17, multiple types.  This gene encodes a beta basic group member that undergoes extensive cleavage at its N-terminal extension during lens maturation.  It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3.