Patient's question:
When should congenital iris absence prenatal screening be done? My friend suffers from congenital iris absence, vision distortion, and nystagmus. Now that she is pregnant, she wants to undergo some thorough examinations. I would like to consult about which hospitals across the country offer congenital iris absence prenatal screening. When can she undergo the examination during pregnancy? Is this condition 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 sufficiently, resulting in congenital absence of the iris. It typically affects both eyes, causing severe photophobia, vision impairment, nystagmus, and often secondary glaucoma or cataracts. This condition is an autosomal dominant genetic disorder, with a 50% chance of being inherited by offspring across generations, regardless of gender. Prenatal diagnosis can be performed by amniocentesis between weeks 16 and 20. Provincial third-class A hospitals' prenatal diagnosis centers can conduct this examination and diagnosis.