Cataracts 43

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

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.

Treatment
Treatment Options: 

Cataract surgery may be required.

References
Article Title: 

References

Hansen L, Comyn S, Mang Y, Lind-Thomsen A, Myhre L, Jean F, Eiberg H, Tommerup N, Rosenberg T, Pilgrim D. The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. Eur J Hum Genet. 2014 Nov;22(11):1290-7.

PubMedID: 24549050