7-year-old female with molecularly confirmed CLN3-associated Batten Disease.
Fundus photos demonstrate mild optic nerve pallor, central macular mottling, attenuated arterioles and peripheral retinal granularity. There was 1+ vitreous cell present. Vision was 20/800 in the right eye and hand motion in the left. Batten disease is a fatal autosomal recessive neurodegenerative disease and is the most common neuronal ceroid lipofuscinosis.
Ophthalmic Atlas Images by EyeRounds.org, The University of Iowa are licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.
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