Cataracts, Congenital, Autosomal Recessive 3

Clinical Characteristics

Ocular Features:

This type of congenital cataract has been reported in two unrelated Pakistani families. The phenotype was dissimilar in the two families. In one, only posterior subcapsular opacification was present. In the other the cataract was membranous and accompanied by a corneal opacity, microcornea, and nystagmus. Nothing is known about the course of the opacification.

Systemic Features:

No systemic disease is apparently present.

Genetics

Consanguinity was reported for both families. Fine mapping identified a locus at 1p34.3-p32.2 that cosegregates with the lens opacities but the mutation is unknown. This region is distinct from the locus containing the mutation(s) causing Volkmann [1] (115665 [2]) and posterior polar [3] (116600 [4]) autosomal dominant cataracts.

Treatment

Treatment Options:

Visually significant lens opacities could be removed.

References

Article Title:

Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p [5]

Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, Husnain T, Riazuddin S, Hejtmancik JF, Riazuddin SA. Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis. 2007 Sep 10;13:1635-40.

PubMed ID:

17893665