Article
Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.
Klinische Monatsblatter fur Augenheilkunde - 1 May 2004
Mantel I, Brantley M A, Bellmann C, Robson A G, Holder G E, Taylor A, Anderson G, Moore A T
Abstract excerpt
BACKGROUND: The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, seizures and visual loss secondary to retinal dystrophy. The juvenile type is of special interest to the ophthalmologist as visual loss is the earliest symptom of the disorder. HISTORY AND SIGNS: We present two...
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