Article
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
JAMA ophthalmology - 1 Jul 2016
Hull Sarah, Arno Gavin, Ku Cristy A, Ge Zhongqi, Waseem Naushin, Chandra Aman, Webster Andrew R, Robson Anthony G, Michaelides Michel, Weleber Richard G, Davagnanam Indran, Chen Rui, Holder Graham E, Pennesi Mark E, Moore Anthony T
Abstract excerpt
IMPORTANCE: Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it is now known to have an increasingly variable phenotype. There is a lack of reported electrophysiologic data, and some key clinical features have yet to be described. OBJECTIVE: To expand on current clinical, electrophysiologic, and molecular...
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