January 27, 2017
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Annual ophthalmologic exams can better detect optic gliomas in pediatric patients

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An annual ophthalmologic examination and screening for precocious puberty in children diagnosed with neurofibromatosis type 1 is important for early detection of optic gliomas, according to a study.

Researchers reviewed medical records of 708 patients younger than 21 years old with a diagnosis of neurofibromatosis type 1 (NF1) in the Southern California Kaiser Permanente electronic medical record database. Thirty patients (4.2%) were found to have a diagnosis of optic glioma; 19 of these patients had bilateral gliomas, seven gliomas were on the right side, and four gliomas were on the left side.

Symptomatic patients were diagnosed later, at 5.7 years of age, than patients who were diagnosed through routine screening, at 3.9 years of age.

Half of the patients diagnosed with a glioma presented with symptoms, such as vision loss, proptosis or precocious puberty, and the other half were asymptomatic. The asymptomatic patients were diagnosed using routine screening or were previously diagnosed before being seen at Kaiser Permanente.

Most children who were diagnosed with NF1 did not have an ophthalmologic appointment. Also, only 20% of those diagnosed as having an optic glioma due to the onset of symptoms had an ophthalmologic appointment.

“Regular screening leads to earlier age at diagnosis and may prevent morbidity. In our study, of those who were diagnosed through screening, before the onset of symptoms, the diagnosis was made at a younger age than for those who did not get screening and were diagnosed only after presenting with symptoms. Consistent with other findings about the benefits of systematic screening, our data suggest that annual screening, starting at a young age, allows for earlier diagnosis and may provide an opportunity to reduce morbidity,” the study authors said. – by Robert Linnehan

Disclosure: The authors report no relevant financial disclosures.