Effectiveness of Primary Care Physician Screening for Detection of Retinoblastoma

Abstract

Purpose:: Retinoblastoma is the most common intraocular malignant tumor in childhood and most commonly presents as leukocoria, a white pupillary reflex. Pediatricians and primary care physicians are trained to perform red reflex testing at each well baby check, in part to screen for leukocoria and retinoblastoma. This study was done to determine how often retinoblastomas are initially discovered by red reflex testing in the primary care office in cases without a known family history of tumor.

Methods:: A retrospective study was conducted on patients diagnosed with non-familial retinoblastoma between January 1, 1995 and December 31, 2006 at the Pediatric Section of the Department of Ophthalmology, Indiana University, Indianapolis, Indiana. Patients with a family history of retinoblastoma were excluded from the study. The patient’s sex, disease laterality, family history, presenting sign, individual who first identified the presenting sign, and age of diagnosis was recorded.

Results:: 20 patients (12 female and 8 male) with a diagnosis of retinoblastoma were identified. Of the females 7 were unilateral, 4 were bilateral, and 1 was trilateral. Of the males 5 were unilateral and 3 were bilateral. 16 patients presented with an abnormal pupillary reflex, 1 with an increase in eye size, 1 with iris color change and "bumping into things", 1 with "something unusual with the right eye", and 1 was found incidentally on a MRI scan. The identifying sign was first noticed by mother in 8 cases, both parents in 4, father in 2, other family members in 3, and grandmother in 2. No children were first identified by red reflex testing by a primary care physician.

Conclusions:: While red reflex testing is important and cost effective for screening ocular media abnormalities, it is not an effective screening tool for retinoblastoma. In this study 16/20 patients diagnosed with retinoblastoma presented with an abnormal pupillary reflex, but all were first noticed by a family member who brought it to the attention of the primary care physician (PCP). In some cases further diagnostic delay was caused by failure of the PCP to recognize the importance of the reported finding from the family. This study indicates that the current method of pupillary examination is an ineffective screening tool for detection of retinoblastoma. Although red reflex testing remains an important screening tool and performance of it should be encouraged, it may be that the most effective training emphasis should be awareness that any family comment referable to an abnormal reflection from the child’s eye in person or in photographs requires prompt evaluation.

Keywords: retinoblastoma • pupillary reflex • tumors