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Familial retinoblastoma: raised awareness improves early diagnosis and outcome

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Session Details

Session Title: Presented Poster Session: Posterior Segment

Venue: Poster Village: Pod 3

First Author: : A.Ghanem JORDAN

Co Author(s): :                  

Abstract Details

Purpose:

To study the impact of awareness of retinoblastoma in the affected families on the management and outcome of familial retinoblastoma patients. Methods and Materials: This is a retrospective, clinical case series of 44 patients with familial retinoblastoma. The data collection required review of the medical records and Ret-Cam images taken between March 2008 and March 2016. The demographic data, laterality, family history, age at the time of diagnosis, presenting signs, treatment modalities, tumor stage, eye salvage rate, metastasis, and mortality were recorded from the hospital records. We classified our patients in this study according to the international classification of retinoblastoma mentioned below1.

Setting:

Ibrahim Al-Nawaiseh, M.D, Aseel Q. Ghanem, M.D, Yacoub A. Yousef , MD. Department of Surgery, King Hussein Cancer Center, Amman, Jordan. Correspondence to: Yacoub A. Yousef, MD Consultant Vitreo-Retinal Surgeon King Hussein Cancer Center, Department of Surgery Queen Rania Al-Abdullah Street, P.O Box 1269, Amman 11941, Jordan

Methods:

This is a retrospective, clinical case series of 44 patients with familial retinoblastoma. The data collection required review of the medical records and Ret-Cam images taken between March 2008 and March 2016. The demographic data, laterality, family history, age at the time of diagnosis, presenting signs, treatment modalities, tumor stage, eye salvage rate, metastasis, and mortality were recorded from the hospital records. We classified our patients in this study according to the international classification of retinoblastoma mentioned below1.

Results:

Out of 200 retinoblastoma patients, 44 (22%) patients were familial; 18 were probands. There were 76 affected eyes; 31 eyes of probands and 45 eyes of the non proband. Among probands, all patients (100%) had at least one eye enucleated; 58% (18 eyes) of the affected eyes were enucleated, and 32% (10 eyes) were radiated. Among the non-probands, only 20% had one eye enucleated, and 4 eyes (9%) received radiation. The eye salvage rate was significantly higher in the non-probands (p=0.00206). Patients diagnosed by screening (38%) had excellent visual outcome without the need for radiation or chemotherapy

Conclusions:

Awareness of families of the possibility of retinoblastoma (by having one person in the family affected with this disease), and adequate screening (even in the absence of genetic testing) led to a significantly higher rate of eye salvage in patients with familial retinoblastoma

Financial Disclosure:

NONE

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