Article
Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease.
Ophthalmology. Retina - 1 Jul 2020
Kovacs Kyle D, Patel Samir, Orlin Anton, Kim Keunpyo, Van Everen Sherri, Conner Therese, Sondhi Dolan, Kaminsky Stephen M, D'Amico Donald J, Crystal Ronald G, Kiss Szilárd
Abstract excerpt
PURPOSE: Mutations in the CLN2 gene lead to a neurodegenerative and blinding lysosomal storage disorder: late infantile neuronal ceroid lipofucinosis, also known as "CLN2 disease." The purpose of the current study was to characterize the evolution of CLN2-associated retinal manifestations using the Weill Cornell Batten Scale (WCBS) and the age association of the retinal degeneration using central subfield...
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