Retinoblastoma

Retinoblastoma is a rare cancer of the eye that develops in the retina, typically affecting young children under the age of 5. It is the most common intraocular malignancy of childhood. While rare overall, retinoblastoma serves as the classic example of the "two-hit hypothesis" of cancer development, where both copies of a tumor suppressor gene must be inactivated for cancer to develop.

Retinoblastoma can occur in one eye (unilateral) or both eyes (bilateral). Hereditary retinoblastoma, which accounts for about 40% of cases, typically presents earlier, often affects both eyes, and can arise at multiple sites. Non-hereditary (sporadic) retinoblastoma usually affects only one eye with a single tumor. The most common presenting signs are leukocoria (white pupillary reflex, often noticed in flash photographs) and strabismus (crossed eyes).

With early detection and treatment, survival rates exceed 95% in developed countries. Treatment options include focal therapies (laser, cryotherapy), chemotherapy (systemic or intra-arterial), radiation therapy, and in some cases, enucleation (eye removal). The goal is to save life, preserve the eye when possible, and maintain useful vision.

Hereditary retinoblastoma is caused by germline mutations in the RB1 gene and is inherited in an autosomal dominant pattern with about 90% penetrance. Survivors of hereditary retinoblastoma have a significantly increased lifetime risk of second cancers, particularly osteosarcoma and soft tissue sarcomas. Children of hereditary retinoblastoma survivors have a 50% chance of inheriting the RB1 mutation and should undergo early and regular eye screening.

NutraHacker examines the following gene related to Retinoblastoma:

• RB1

For more information about your own genetic profile as related to Retinoblastoma, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload whole genome sequencing data and find out more about your critical genetics today.