Congenital cataract
Alerts and Notices
Synopsis
Cataracts that are found unilaterally are usually nonsyndromic, isolated findings, while bilateral cataracts are more often associated with inheritable diseases and syndromes.
Congenital cataracts are usually detected when the primary care provider finds an abnormal red reflex on red reflex testing. Prompt referral to a pediatric ophthalmologist is warranted. Untreated cataracts can lead to loss of visual acuity, amblyopia, nystagmus, strabismus, and permanent blindness.
Congenital cataracts appear at a rate of 1-15 per 10 000 infants worldwide. Cataracts remain one of the leading treatable causes of childhood blindness.
Unilateral congenital cataracts occur with some congenital infections, trauma, and primary ocular abnormalities. Bilateral cataracts are found in syndromes such as trisomy 13, trisomy 18, and trisomy 21, as well as any of the TORCH infections. Other causes include congenital infections such as herpes simplex virus (HSV), varicella, and Epstein-Barr virus (EBV); metabolic derangement such as galactosemia; maternal diabetes; and syndromes including ectodermal dysplasia, chondrodysplasia syndrome, Hallermann-Streiff syndrome, and many others.
Related topic: Cataracts (non-congenital)
Codes
ICD10CM:Q12.0 – Congenital cataract
SNOMEDCT:
79410001 – Congenital cataract
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
- Retinoblastoma – Can present with unilateral or bilateral leukocoria.
- Congenital glaucoma – Presentation may include a cloudy cornea, sensitivity to light, redness of the eye, and excessive tearing.
- Retinal detachment – Can present with abnormal red reflex but normal cornea on slit lamp.
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:11/16/2017
Last Updated:09/08/2019
Last Updated:09/08/2019