Retinoblastoma syndrome

Also known as: Hereditary retinoblastoma

Germline RB1 mutation with retinoblastoma and second cancers.

Medical specialty: Oncology
Subspecialty: Oncology / Hereditary cancer syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, mostly under 5 years
Gene(s) involved: RB1

Etiology & mechanism

RB1 tumor suppressor loss.

Gene(s) involved (1)

RB1

Symptoms & signs (6)

leukocoriaosteosarcomared eyesoft tissue sarcomastrabismusvision loss

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.