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Congenital cataract
Other Resources UpToDate PubMed

Congenital cataract

Contributors: Eric Ingerowski MD, FAAP, Lauren Patty Daskivich MD, MSHS
Other Resources UpToDate PubMed

Synopsis

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)

Codes

ICD10CM:
Q12.0 – Congenital cataract

SNOMEDCT:
79410001 – Congenital cataract

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Last Reviewed:11/16/2017
Last Updated:09/08/2019
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Congenital cataract
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A medical illustration showing key findings of Congenital cataract : Leukocoria, Poor vision
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