retinoblastoma

Epidemiology

• occurs in about 1:20,000 live births
• represents about 2% of childhood malignancies

Pathology

• arises from the nuclear layers of the retina
• bilateral in about 30% of cases

Genetics

• most cases sporadic
• ~ 20% are transmitted as autosomal dominant with incomplete penetrance
• implicated genes: Rb gene, DUSP26

Clinical manifestations

• diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated

Laboratory

• PCR/southern blot/northern blot/in-situ hybridization

More general terms

• embryonal neoplasm
• neuroepithelial neoplasm

Additional terms

• chromosome 13q14 deletion (retinoblastoma)
• retinoblastoma [Rb] gene (Rb1)

Patient information

retinoblastoma patient information

Database

• OMIM: https://mirror.omim.org/entry/180200