Cataract 35

Clinical Features

Riazuddin et al. (2005) described a 4-generation consanguineous family (family 60023) with autosomal recessive nonsyndromic congenital nuclear cataract from a remote village in the Punjab province of Pakistan. Bilateral nuclear cataracts were either present at birth or developed in infancy. The cataracts showed consistent morphology, but varied in size.

Mapping

Riazuddin et al. (2005) performed a genomewide scan of affected and unaffected members of a 4-generation consanguineous Pakistani family segregating nonsyndromic congenital nuclear cataract and found a maximum lod score of 2.89 for marker D19S414 on 19q13. Lack of homozygosity further suggested that the cataract locus might lie in a 7-cM (4.3-Mb) interval flanked by D19S928 proximally and D19S425 distally. On fine mapping, a maximum lod score of 3.09 was obtained for D19S416 at theta = 0. For other forms of cataract mapping to this region, see CTRCT19 (615277) and hyperferritinemia with or without cataract (600886).

Inheritance

The transmission pattern of cataract in the family reported by Riazuddin et al. (2005) was consistent with autosomal recessive inheritance.