Which genetic syndrome is associated with an abnormal white reflection in the eye?

Retinoblastoma is a pediatric eye cancer that arises from the retina and is most commonly associated with an abnormal white reflection in the eye, known as leukocoria. This reflection occurs due to the presence of a tumor within the eye that interferes with normal light reflection in the retina. When light is directed into the eye, instead of seeing the usual red reflex, a white or yellowish reflection may appear if there is a mass, indicating the presence of cancerous growth.

This condition can manifest early in life, often before the age of 5, which is critical for early detection and intervention. Other symptoms of retinoblastoma may include strabismus (crossed eyes), vision problems, or eye swelling, and it can be hereditary in some cases due to mutations in the RB1 gene.

While Gorlin Syndrome, Nevoid Basal Cell Carcinoma Syndrome, and Von Hippel-Lindau Syndrome are associated with various tumor predispositions or other neoplastic processes, they do not specifically present with leukocoria as a hallmark feature. Therefore, retinoblastoma stands out as the condition most directly linked to an abnormal white reflection in the eye, reinforcing its recognition in clinical practice for early detection of this serious condition.