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

Volumn 221, Issue 5, 2004, Pages 427-430

  Mantel, Irmela ^a,b   Brantley Jr , M A ^b   Bellmann, C ^b   Robson, A G ^b   Holder, G E ^b   Taylor, A ^c   Anderson, G ^c   Moore, A T ^b  

^a HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Autofluorescence; Batten Spielmeyer Vogt disease; Bull's eye maculopathy; CLN3 protein, Batten disease; Electronegative ERG; Lipofuscin; Neuronal ceroid lipofuscinoses; Retinitis pigmentosa; Rod cone dystrophy

Indexed keywords

AUTOFLUORESCENCE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 16P; CLN3 GENE; CONFERENCE PAPER; DIAGNOSTIC ACCURACY; ELECTRORETINOGRAPHY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; MALE; MENTAL DETERIORATION; MOLECULAR GENETICS; NEUROLOGIC DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; NIGHT BLINDNESS; OPHTHALMOSCOPY; PHENOTYPE; PHOTOPHOBIA; PHOTORECEPTOR CELL; RETINA CONE; RETINA DYSTROPHY; RETINA MACULOPATHY; RETINA PIGMENT DEGENERATION; RETINA ROD; SEIZURE; SIBLING; VISUAL IMPAIRMENT;

BLINDNESS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; CORNEAL DYSTROPHIES, HEREDITARY; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HOMOZYGOTE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR CHAPERONES; NEURONAL CEROID-LIPOFUSCINOSES; NIGHT BLINDNESS; PHENOTYPE; RETINAL DEGENERATION;

EID: 3042582100     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-812819     Document Type: Conference Paper

References (16)

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