Patient's question:
When should congenital iris absence prenatal screening be done? My friend suffers from congenital iris absence, vision distortion, and nystagmus. Now she is pregnant and wants to do many tests. I would like to consult about which hospitals in the country can perform congenital iris absence prenatal screening. When can she do the tests during pregnancy? Is this disease hereditary?Doctor's answer:
Congenital aniridia is caused by the obstruction of growth and division in the anterior part of the optic cup, leading to the inability of the iris to develop fully, resulting in congenital absence of the iris. It typically affects both eyes, causing severe photophobia, vision impairment, nystagmus, and often secondary glaucoma or cataracts in the second-order neurons. This condition is inherited as an autosomal dominant genetic disorder, with a 50% chance of passing it to offspring across generations, regardless of gender. Prenatal diagnosis can be performed by amniocentesis between weeks 16 and 20 of pregnancy. Provincial third-class hospital prenatal diagnosis centers can conduct this examination.