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Leber congenital amaurosis in a young female

Connelly, Abigail M.; Grosel, John M. MD

Journal of the American Academy of PAs: October 2019 - Volume 32 - Issue 10 - p 1–4
doi: 10.1097/01.JAA.0000580540.26228.6b
Case Report
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ABSTRACT Leber congenital amaurosis is a rare congenital disorder caused by a mutation in any of several different genes that causes rod-cone dystrophy and may eventually lead to blindness. Characteristic findings on fundoscopic examination include retinal pigment migration and macular atrophy. Confirmation can be obtained using electroretinograms and the specific gene can be identified with genetic testing. No treatment is available, but multiple clinical trials are underway.

At the time this article was written, Abigail M. Connelly was a student in the PA program at Marietta (Ohio) College. She now works in orthopedics in Wheeling, W. Va. John M. Grosel is an associate professor in the PA program at Marietta College and a radiologist at Riverside Radiology and Interventional Associates, Inc., in Columbus, Ohio. The authors have disclosed no potential conflicts of interest, financial or otherwise.

Copyright © 2019 American Academy of Physician Assistants
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