Diagnosing the causes of optic atrophy in children can be tricky, but “screening recipes” can help.
Reviewed by Nancy J. Newman, MD
Diagnostic optic atrophy in children is a complicated business, but what confounds the situation even more is that the inherited optic neuropathies are only one of a plethora of causes of optic atrophy in children, said Nancy J. Newman, MD.
“In addition to the inherited causes of optic atrophy, clinicians still need to think about all the other causes of optic atrophy,” said Dr. Newman, the LeoDelle Jolley Professor Ophthalmology, Emory University School of Medicine, Atlanta.
A pearl that she offered physicians underscores the importance of magnetic resonance imaging of the brain and orbits with and without gadolinium when evaluating a child with optic atrophy but not necessarily with congenital nystagmus.
In this clinical scenario, she also advised ordering tests for neuromyelitis optica and myelin oligodendrocyte glycoprotein antibodies, checking the medication list for any toxicities such as any antibiotics having been prescribed, ascertaining any toxic exposures, and finally consideration of nutritional deficiencies.
Another big must for Dr. Newman especially in the presence of a syndrome is the consideration of a retinal cause despite the fact that the optic nerves appear pale. “Always order an electroretinogram,” she said.
Nancy J. Newman, MD
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Dr. Newman is a consultant for GenSight Biologics and Santheraa Pharmaceuticals and a member of the data safety monitoring board for the Quark AION study.