Congenital Cataract Workup

Updated: Aug 17, 2018
  • Author: Mounir Bashour, MD, PhD, CM, FRCSC, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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Laboratory Studies

For unilateral cataracts, laboratory studies include TORCH titers and Venereal Disease Research Laboratory (VDRL) test.

For bilateral cataracts, laboratory studies include CBC, BUN, TORCH titers, VDRL, urine for reducing substances, red cell galactokinase, urine for amino acids, calcium, and phosphorus.


Imaging Studies

CT scan of brain may be performed.


Other Tests

See the list below:

  • Hearing test

  • With screening of genes associated with cataract: Fourteen common genes that include crystallin alpha A (CRYAA), CRYAB, CRYG s, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3; beaded filament structural protein 1 (BFSP1); gap function protein; alpha 3 (GJA3) and GJA8; and heat shock transcription factor 4, as well as other genes, can be amplified. [3]