title: Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.
abstract: 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.
  
  
  METHODS
  We present two siblings with severe retinal dystrophy due to juvenile Batten disease. Sibling A (age 10) presented with visual loss, photophobia and night blindness, starting at age 4. His vision was perception of light by the age of 10.5 years. Fundus examination revealed severe pigmentary retinopathy. Sibling B (age 7) presented with night vision difficulties. Fundus examination revealed a bull's eye maculopathy with minimal peripheral atrophic changes. In vivo autofluorescence level was found to be very low. Electroretinography (ERG) showed generalized retinal dysfunction involving both cone and rod systems, with an electronegative maximal response. In both siblings vacuolated lymphocytes were found on a peripheral blood film and on molecular genetic testing both were homozygous for the commonly reported 1.02-kb deletion of the CLN3 gene.
  
  
  RESULTS
  Although there is no effective treatment, the early diagnosis allowed accurate genetic and social counseling.
  
  
  CONCLUSIONS
  Juvenile Batten disease should be considered in children with a retinal dystrophy, especially where there is a bull's eye maculopathy and an abnormal full field ERG. The novel finding of very low in vivo autofluorescence is consistent with histopathological studies and may be secondary to photoreceptor cell loss.
authors.affiliation: Hôpital Ophtamique Jules Gonin, Lausanne, Switzerland. irmela.mantel@ophtal.vd.ch
authors.forename: I
authors.initials: I
authors.lastname: Mantel
authors.forename: M A
authors.initials: MA
authors.lastname: Brantley
authors.forename: C
authors.initials: C
authors.lastname: Bellmann
authors.forename: A G
authors.initials: AG
authors.lastname: Robson
authors.forename: G E
authors.initials: GE
authors.lastname: Holder
authors.forename: A
authors.initials: A
authors.lastname: Taylor
authors.forename: G
authors.initials: G
authors.lastname: Anderson
authors.forename: A T
authors.initials: AT
authors.lastname: Moore
mesh_terms: D001766:Blindness / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006720:Homozygote; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D018832:Molecular Chaperones / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics*; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones