Purpose: To illustrate the potential diagnostic confusion between Batten disease and Stargardt disease created by associated signs and symptoms. Observations: A six-year-old girl with vision loss and prominent behavioral changes and overlooking was presumptively diagnosed as having the Batten disease form of neuronal ceroid lipofuscinosis. However, genetic testing confirmed the diagnosis of Stargardt disease. Conclusions and importance: Behavioral changes and overlooking can accompany the devastating central visual loss of Stargardt disease. In the absence of objective neurologic findings, these features need not signify a potentially life-threatening disease.
- Behavioral changes
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