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Batten disease/juvenile neyronal ceroid lipofuscinoses (JNCL)- case report and literature review

Poster Details

First Author: N.Farmakakis GREECE

Co Author(s):    M. Papalamprou   O. Makri   C. Georgakopoulos   A. Exarchou         0   0 0   0 0   0 0   0 0

Abstract Details


Batten disease is characterized by a rapid deterioration of vision, progressing to blindness within a few years. Onset typically occurs between 5 and 10 years of age. Fundus shows a bull's eye maculopathy, diffuse pigmentary degeneration, arteriolar attenuation and optic atrophy, and an extinguished electroretinogram ( ERG).


Department of Ophthalmology, University Hospital of Patras


Case report and review of the literature.


The visual acuity and ocular findings of a 11-year-old child, eventually diagnosed with Batten disease, are reviewed. Additionally, a review of the literature concerning the ocular and systemic manifestations of the various Neuronal Ceroid Lipofuscinoses (NCL) is presented.


Batten disease is the most likely of the Neuronal Ceroid Lipofuscinoses (NCL) to be manifested in an ophthalmic practitioner's office before the diagnosis of the underlying condition. Although currently there is no treatment for this condition, making the correct diagnosis is important for appropriate low-vision management, educational planning, and genetic counseling.

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