Retinoblastoma is a malignant tumor of the developing retina that affects children, usually before the age of 5. The most common sign of retinoblastoma is a white pupillary reflex (leukocoria). Other symptoms may include strabismus, change in eye appearance, reduced visual acuity. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma, about 40% have bilateral retinoblastoma.
Hereditary retinoblastoma is inherited in an autosomal dominant pattern. Individuals with heritable retinoblastoma have a higher risk of developing non-ocular tumors.
The estimated incidence of retinoblastoma is 1 in 15 000 – 20 000 live births.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Testing of at-risk family members of an affected individual
4. Genetic counseling
5. Prenatal diagnosis for known familial mutation
Lohmann DR and Gallie BL. Retinoblastoma. GeneReviews® 2000 July 18 (Updated 2015 November 19)
Genetics Home Reference https://ghr.nlm.nih.gov.
Seregard S, et al. Incidence of retinoblastoma from 1958 to 1998 in Northern Europe: advantages of birth cohort analysis. Ophthalmology. 2004;111:1228–32.