ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (3)
Congenital cataract
Other Resources UpToDate PubMed

Congenital cataract

Print Images (3)
Contributors: Eric Ingerowski MD, FAAP, Lauren Patty Daskivich MD, MSHS
Other Resources UpToDate PubMed


Congenital cataracts are opacifications of the normally translucent eye lens that are present at birth. Cataracts that form in the visual axis have the potential to disrupt vison and even lead to blindness, making early detection and treatment critical to preserving vision. However, more peripherally located cataracts or very small cataracts may not have any negative visual effects. Cataracts are thought to form when there is an insult to the normal lens formation from metabolic derangements, infections, or trauma.

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

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


Subscription Required


Subscription Required

Last Reviewed: 11/17/2017
Last Updated: 09/09/2019
Copyright © 2020 VisualDx®. All rights reserved.
Congenital cataract
Print 3 Images
View all Images (3)
(with subscription)
Congenital cataract : Leukocoria, Poor vision
Copyright © 2020 VisualDx®. All rights reserved.