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Ophthalmology and Visual Sciences

Batten Disease

Batten Disease

Category(ies): Genetics, Inherited Eye Disease, Retina
Contributor: Jeffrey D. Welder, MD
Photographer: Carol Chan, CRA
Posted: June 19, 2013

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.

OMIM #204200