Clinical Characteristics
Ocular Features
Cataracts apparently are diagnosed at variable ages but likely have a juvenile or earlier age of onset. One patient in the Danish multigenerational family was diagnosed at age 18 years but was not operated upon until age 45. The lens opacities in this individual were located centrally and in the posterior subcapsular region. Virtually no clinical information is available since other patients in this family had previously had cataract surgery and the lens phenotype could not be determined. No other ocular abnormalities were reported.
Systemic Features
No systemic abnormalities have been reported.
Genetics
Inheritance
A single Danish family with 9 affected members in 3 generations has been reported. Heterozygous mutations in UNC45B gene (17q12) are most likely responsible but other candidate genes have not been completely ruled out.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission