Cataracts, Congenital, Autosomal Recessive 2

Clinical Characteristics
Ocular Features: 

Bilateral nuclear lens opacities are either present at birth or noted during infancy.  The cataracts were sufficiently dense that surgery is necessary within several months of age in most patients.  No other ocular disease is present.

Systemic Features: 

No systemic abnormalities are present.


CATC2 is an autosomal recessive condition that has been reported in 12 consanguineous Pakistani families.  Homozygous mutations in FYCO1 (3p21.31) segregated with the lens opacities as expected.  Mutations in FYC01 are among the most common causes of congenital cataracts in Pakistan and may account for about 10% of the total genetic load of cataracts in this country.  Mutations in the same gene have been found segregating in several consanguineous Arab families with congenital cataracts as well.

Treatment Options: 

Cataract surgery is frequently necessary during infancy.

Article Title: 


Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011 Jun 10;88(6):827-38.

PubMedID: 21636066

Pras E, Pras E, Bakhan T, Levy-Nissenbaum E, Lahat H, Assia EI, Garzozi HJ, Kastner DL, Goldman B, Frydman M. A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. Isr Med Assoc J. 2001 Aug;3(8):559-62.

PubMedID: 11519376