July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Lack of correlation between Age at Diagnosis and RB1 mutations for Unilateral Retinoblastoma in a Predominantly Hispanic Population: The Importance of Genetic Testing
Author Affiliations & Notes
  • Abdul-Hadi Kaakour
    Ophthalmology, USC Roski Eye Institute, Los Angeles, California, United States
  • Jesse L Berry
    Ophthalmology, USC Roski Eye Institute, Los Angeles, California, United States
  • Laura Lewis
    Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, United States
  • Emily June Zolfaghari
    The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, United States
  • Sarah Green
    Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, United States
  • Thomas C Lee
    Ophthalmology, USC Roski Eye Institute, Los Angeles, California, United States
    The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, United States
  • A Linn Murphree
    Ophthalmology, USC Roski Eye Institute, Los Angeles, California, United States
    The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, United States
  • Jonathan W Kim
    Ophthalmology, USC Roski Eye Institute, Los Angeles, California, United States
    The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, United States
  • Rima Jubran
    Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, United States
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 1638. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Abdul-Hadi Kaakour, Jesse L Berry, Laura Lewis, Emily June Zolfaghari, Sarah Green, Thomas C Lee, A Linn Murphree, Jonathan W Kim, Rima Jubran; Lack of correlation between Age at Diagnosis and RB1 mutations for Unilateral Retinoblastoma in a Predominantly Hispanic Population: The Importance of Genetic Testing. Invest. Ophthalmol. Vis. Sci. 2018;59(9):1638.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose : To evaluate whether the age at diagnosis for unilateral, sporadic (i.e., non-familial) retinoblastoma (Rb) corresponds with the presence of a germline retinoblastoma tumor suppressor gene (RB1) mutation.

Methods : Retrospective chart review from 1990 to 2017

Results : 187 patients with unilateral, sporadic retinoblastoma with RB1 genetic testing results were identified. A positive RB1 mutation was identified in 35 of 187 patients (18.7%). Unilateral patients who tested positive for an RB1 mutation had a mean age at diagnosis of 25 ± 22 months while unilateral patients who tested negative for a RB1 mutation presented with a mean age of 22 ± 18 months (z = -0.67, p = 0.50.).

Conclusions : Our data did not demonstrate an association between younger age at diagnosis and a higher risk of harboring an RB1 gene mutation in unilateral retinoblastoma patients from a predominantly Hispanic population. Age at diagnosis should not be used to stratify the risk for the presence of a germline mutation for patients with unilateral, sporadic retinoblastoma and all children should undergo genetic testing to identify the risk of future ocular and non-ocular disease for the patient and their families.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×