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Table 2 Clinical presentation

From: Retinoblastoma genetics screening and clinical management

 

Mutation

No mutation

Average age of diagnosis

1.82 years

2.08 years

Need for enucleation

23 of 29(79.31%)

20 of 21(95.23%)

Average age of enucleation

2.08 years*

2.05 years #

Optic nerve invasion

11 of 17 (64.7%)

8 of 19(42.1%)

Sub retinal seeds

17 OF 25(68%)

4 OF 20(20%)

Pathological high risk factors

17 of 23(73.9%)

9 of 19 (47.36%)

  1. *Average age of enucleation calculated after excluding 1 patient who was enucleated at 13.77 years
  2. #Includes one pt who presented at 5.13 years and was not enucleated. BL detected early and therefore managed early compared to UL which is late
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BMC Medical Genomics

ISSN: 1755-8794

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