Table 1 of Ganguly, Mol Vis 2010; 16:1292-1303.

Table 1. Clinical feature of the individuals with retinoblastoma and the tumors.

Patient description

RB1 mutation*


Clinical features


Retino-blastoma Stage ICRB* Growth Optic nerve invasion Iris neo-vascularization Retinal detachment Necrosis (%)
13 months Female p.E125X, exon 3; germline Bilateral well, poor E

9 months Female g.73774G>T, exon 13, E413X; germline Bilateral well, variable E Endo/exo-phytic No Not reported Yes 20
15 months Female g.76490A>G, +4 position of intron 14; LOH; somatic Unilateral poor E Endophytic No Yes Yes 10
5 years Male g.153358G>A, +5 position of intron 19; LOH;somatic Unilateral poor D Endophytic No No Yes 20
4 years Female RB1 gene duplication; Unilateral poor E Endo/exo-phytic No Not reported Yes 80
12 months Female Promoter methylation; somatic Unilateral well, variable E Endo/exo-phytic No No Yes 50