The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience

Abstract

Background: The Inborn Errors of Metabolism (IEM) are far from the rare systemic diseases that mainly affect the neural tissue. There are very few written reports on ocular findings in subjects with IEM, thus it was interesting to study the frequency of ocular findings in the studied population and explore their contribution to the early diagnosis of IEM.

The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway

“…The seven papers retrieved that focused on the diagnostic work‐up contained information regarding general evaluation of children with ID, ophthalmological investigations and detection of IEMs in emergency units .…”

“…A clinical suspicion of IEM as a cause of ID should be increased if the medical history includes consanguineous parents, similar neurodevelopmental disorder in siblings and if the patient experiences episodic fatigue or lethargy that increases in relation to food intake. An ophthalmological examination may also give valuable diagnostic clues . If the patients’ cognitive decline is progressing, it raises the suspicion of an IEM .…”