Typical Pediatric Vision Screening Can Miss Retinoblastoma

Steven Fox

October 03, 2011

October 3, 2011 — A case study of a 2-year-old child diagnosed with retinoblastoma after a normal autorefraction test and traditional screenings is calling into question the wisdom of recently revised guidelines from the US Preventive Services Task Force (USPSTF). That case study was published online October 3 in Pediatrics.

The new guidelines from the UPSTFS say there is insufficient evidence to recommend vision screening in children younger than 3 years of age. Those guidelines also do not address the value of red-reflex tests in evaluating children of that age.

Sean Donahue, MD, PhD, chief of pediatric ophthalmology at Vanderbilt University Children's Hospital, Nashville, Tennessee, and colleagues authored the study.

"We believe that it's crucially important for primary care physicians to use red-reflex testing in younger children to detect the presence of this potentially fatal malignancy," Dr. Donahue told Medscape Medical News in a telephone interview.

He notes that policy statements issued by the American Academy of Pediatrics recommend that red-reflex testing be included as part of regular pediatric wellness exams, beginning when children are discharged from the neonatal nursery.

Retinoblastoma is rare, but even so it is the most common intraocular malignancy seen in children, with about 300 new cases diagnosed each year. The average age of diagnosis is 18 months, and the most common presenting symptoms are leukocoria and strabismus.

However, symptoms of retinoblastoma do not always show up with use of some conventional eye tests.

Dr. Donahue notes that previous USPSTF guidelines endorsed visual screening for children younger than 3 years, along with older children, but the latest USPSTF guidelines dropped the recommendation for testing younger children.

Dr. Donahue said he thinks that dropping this recommendation is a mistake, and this is an argument he said he hopes to make with the case study. The patient, a previously healthy child, was seen by her pediatrician for a routine 2-year-old exam, and the pediatrician noted no problems.

A month later she was given a standard vision evaluation at her local preschool; that screening included an autorefractor test. "The reliability coefficients for the automated screening met the criteria established by the manufacturer, and the results of the automated screening were normal both for sphere and cylinder in each individual eye and for intraocular difference in refraction," Dr. Donahue and colleagues note in their report.

Six months after that exam, however, the child presented to her pediatrician with a 2-week history of leukocoria. The pediatrician referred the child to a pediatric ophthalmologist.

That exam turned up no irregularities in the right eye, but in the left the ophthalmologist noted "a large bilobed, irregular mass that extended from the nasal periphery and was overlying the central visual axis."

The red reflex in her left eye was distinctly abnormal, Dr. Donahue said, and a computed tomography scan of that eye showed calcification highly suggestive of retinoblastoma. Pathology reports confirmed the diagnosis.

The child underwent a successful enucleation of the affected eye and has done well since, the authors write.

However, Dr. Donahue stresses that had the child's symptoms not been followed up with further evaluation, including red-reflex testing, the outcome might have been far less favorable.

"The case we present here is a clear example of one that might have otherwise been a fatal event," Dr. Donahue said. "And it highlights that the USPTF guidelines are simply wrong."

This is not the first time Dr. Donahue has expressed his concern about the revised guidelines. Soon after they were published, he and colleagues from a variety of pediatric ophthalmology organizations published an invited commentary, also in Pediatrics, questioning the USPTF's revision of the guidelines. In that article, the authors warned that omission of the red-reflex test could cause clinicians to miss cataracts and retinoblastomas in young children.

"This case should make it clear that this test is a vitally important one and should be done routinely and on a regular basis by pediatricians," Dr. Donahue said.

He emphasized that the test is simple and easy to perform: "It takes about 10 seconds, and it's been clearly shown that it can pick up significant pathology in kids."

He also stresses that typical preschool vision screening does not specifically target the detection of retinoblastoma. "So we don't think that this case should be interpreted as an indictment of either traditional or automated vision screening."

Instead, he said, it should highlight the benefits of regular pediatric ocular exams, including red-reflex tests. "Since these tumors start out very, very small, they may not show up at a single point in time, so screening needs to be a continual process," he said.

Commenting on the study in an interview with Medscape Medical News, James Ruben, MD, chair of the American Academy of Pediatrics' section on ophthalmology, underscored the value of red-reflex testing in young children. "It's objective, not subjective. It's effective, it's very quick to do, and it doesn't require a lot of expensive and complicated hardware," he said.

Dr. Ruben, who is also clinical professor at University of California, Davis, was not involved in the published study. He said red-reflex testing should be a part of any complete pediatric wellness exam. "It should definitely be performed in any child in whom you can't visualize a fundus or in any child who presents with an ocular complaint," he said.

So, how many pediatricians would he estimate are currently using the test? "That's hard to know, because I don't think there have been many studies looking at that," he said, noting that with some electronic medical record software, fields may be set to "auto-populate," so it can often be difficult to know for sure what tests are actually being done.

"All we can do is make the recommendations," he said.

Dr. Donahue has acted as a consultant for Welch-Allyn, Inc; Plus-Optix; Pediavision; Pediatric Vision Screener; and Diopsys, Inc, all of which produce vision screening devices. The other authors and Dr. Ruben have disclosed no relevant financial relationships.

Pediatrics. Published online October 3, 2011.

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