Article
Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.
BMC ophthalmology - 1 Oct 2020
Hagedorn Joshua, Avdic Armin, Schnieders Michael J, Roos Benjamin R, Kwon Young H, Drack Arlene V, Boese Erin A, Fingert John H
Abstract excerpt
BACKGROUND: Nanophthalmos has a significant genetic background and disease-causing mutations have been recently been reported in the myelin regulatory factor (MYRF) gene. We report clinical features in a patient with nanophthalmos and a Thr518Met MYRF mutation. CASE PRESENTATION: A three-year-old male was discovered to have nanophthalmos after first presenting to the emergency department for a frontal headache,...
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