Cataracts, CRYAA Mutations

Clinical Characteristics

Ocular Features:

This seems to be a clinically heterogeneous group of lens opacities all due to mutations in the crystallin gene CRYAA [1]. Some patients also have colobomas and may have microcornea and corneal opacities. The lens opacities are usually bilateral but there is considerable asymmetry in their morphology. Opacities may be nuclear, polar, cortical, sutural, embryonal, and anterior subcapsular in location. The cataracts are often present at birth.

Systemic Features:

Systemic disease is absent.

Genetics

A variety of mutations in the CRYAA [1] (21q22.3) have been reported in a several ethnic groups. Most pedigrees are consistent with autosomal dominant inheritance but autosomal recessive inheritance has been suggested in other families.

Treatment

Treatment Options:

Lens extraction may be necessary.

References

Article Title:

A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract [2]

Kong XD, Liu N, Shi HR, Dong JM, Zhao ZH, Liu J, Li-Ling J, Yang YX. A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract. Genet Mol Res. 2015 Jan 23;14(1):426-32.

PubMed ID:

25729975

A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family [3]

Su D, Guo Y, Li Q, Guan L, Zhu S, Ma X. A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family. Mol Vis. 2012;18:3057-63.

PubMed ID:

23288997

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA) [4]

Richter L, Flodman P, Barria von-Bischhoffshausen F, Burch D, Brown S, Nguyen L, Turner J, Spence MA, Bateman JB. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). Am J Med Genet A. 2008 Apr 1;146(7):833-42.

PubMed ID:

18302245