Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.

Détails

ID Serval
serval:BIB_33330
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.
Périodique
Klinische Monatsblätter für Augenheilkunde
Auteur⸱e⸱s
Mantel I., Brantley M.A., Bellmann C., Robson A.G., Holder G.E., Taylor A., Anderson G., Moore A.T.
ISSN
0023-2165
Statut éditorial
Publié
Date de publication
2004
Volume
221
Numéro
5
Pages
427-430
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
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 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. THERAPY AND OUTCOME: 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.
Mots-clé
Blindness/diagnosis, Blindness/genetics, Child, Chromosome Deletion, Chromosomes, Human, Pair 16, Corneal Dystrophies, Hereditary/diagnosis, Corneal Dystrophies, Hereditary/genetics, DNA Mutational Analysis, Disease Progression, Electroretinography, Female, Fluorescein Angiography, Homozygote, Humans, Male, Membrane Glycoproteins/genetics, Molecular Chaperones/genetics, Neuronal Ceroid-Lipofuscinoses/diagnosis, Neuronal Ceroid-Lipofuscinoses/genetics, Night Blindness/diagnosis, Night Blindness/genetics, Phenotype, Retinal Degeneration/diagnosis, Retinal Degeneration/genetics
Pubmed
Web of science
Création de la notice
19/11/2007 12:32
Dernière modification de la notice
20/08/2019 13:19
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