Colobomas involving the iris and retina are associated with:

• A. CHARGE syndrome
• B. Down's syndrome
• C. Turner's syndrome
• D. Noonan syndrome

Answer: (A)

Coloboma arises when the embryonic fissure fails to close during early eye development, leading to gaps in ocular structures such as the iris and retina. When colobomas involve the iris and retina, they are classically seen in CHARGE syndrome, a multisystem disorder caused by CHD7 mutations. CHARGE is characterized by Coloboma, Heart defects, Atresia of choanae, Retarded growth and development, Genital abnormalities, and Ear anomalies, so the eye finding strongly points to this syndrome. The other conditions listed do not have iris/retinal coloboma as a defining feature, so they are less likely associations.