- 1 in 10,000 births.
- Unilateral or bilateral opacity of the lens.
- Bilateral lesions are usually syndromic, whereas unilateral are usually related to fetal infection.
- The incidence of chromosomal defects is not increased.
- Genetic syndromes are found in about 10% of cases. The most common include: Walker-Warburg (autosomal recessive; type II lissencephaly, agenesis of corpus callosum, cerebellar malformations, cataract) and Chondrodysplasia punctata (X-linked recessive; cataract, symmetric rhizomelic shortening and epiphyseal calcifications).
- Congenital infection (especially rubella, toxoplasmosis, CMV) found in 30% of cases.
- Detailed ultrasound examination, including neurosonography.
- Invasive testing for karyotyping and array.
- TORCH for fetal infection.
- Standard follow-up in isolated cases.
- If suspected fetal infection, then follow-up every 2 weeks.
- Standard obstetric care and delivery.
- Isolated: generally good. Ophathmologic intervention after birth has good results with an unaffected quality of life.
- Syndromic: prognosis is generally poor.
- Isolated: no increased risk of recurrence.
- Part of syndroms: 25%.