Dhimas H Sakti, Elisa E Cornish, Clare L Fraser, Benjamin M Nash, Trent M Sandercoe, Michael M Jones, Neil A Rowe, Robyn V Jamieson, Alexandra M Johnson, John R Grigg
BACKGROUND: Neuronal ceroid lipofuscinosis is a group of neurodegenerative disorders with varying visual dysfunction. CLN3 is a subtype which commonly presents with visual decline. Visual symptomatology can be indistinct making early diagnosis difficult. This study reports ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future therapy. METHODS: Retrospective review of 5 confirmed CLN3 patients in our eye clinic...
March 25, 2023: Documenta Ophthalmologica. Advances in Ophthalmology