Skip to main content
. 2020 Mar 10;6(5):376–380. doi: 10.1159/000505751

Table 1.

Genetic subtypes of retinoblastoma: distribution and phenotypic correlation

Family history Heritability First mutation Second mutation Phenotype* Distribution
Familial present heritable inherited germline somatic bilateral or unilateral 10%
Nonfamilial absent heritable new-onset germline somatic bilateral or unilateral 25%
Sporadic absent nonheritable somatic somatic unilateral 65%
*

Germline mutation can manifest as no tumor (carrier status), unilateral, or bilateral tumors. While the majority of unilateral cases (85%) are sporadic in origin, 15% of unilateral tumors can be due to underlying germline mutation.