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)
Q12.0 – Congenital cataract
79410001 – Congenital cataract
Differential Diagnosis & Pitfalls