Prevalence:

• 1 in 10,000 births.

Ultrasound diagnosis:

• Unilateral or bilateral opacity of the lens.
• Bilateral lesions are usually syndromic, whereas unilateral are usually related to fetal infection.

Associated abnormalities:

• 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.

Investigations:

• Detailed ultrasound examination, including neurosonography.
• Invasive testing for karyotyping and array.
• TORCH for fetal infection.

Follow up:

• Standard follow-up in isolated cases.
• If suspected fetal infection, then follow-up every 2 weeks.

Delivery:

• Standard obstetric care and delivery.

Prognosis:

• Isolated: generally good. Ophathmologic intervention after birth has good results with an unaffected quality of life.
• Syndromic: prognosis is generally poor.

Recurrence:

• Isolated: no increased risk of recurrence.
• Part of syndroms: 25%.