Kjellin syndrome: Long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene

Ophthalmology

Volumn 118, Issue 3, 2011, Pages 564-573

  Puech, Bernard ^a   Lacour, Arnaud ^b   Stevanin, Giovanni ^c,d,e   Sautiere, Bruno G ^a   Devos, David ^b   Depienne, Christel ^c,d,e   Denis, Elodie ^c   Mundwiller, Emeline ^d,e   Ferriby, Didier ^b   Vermersch, Patrick ^b   Defoort Dhellemmes, Sabine ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIV LILLE   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d INSERM   (France)

^e SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE; AUTOSOMAL RECESSIVE DISORDER; CATARACT; CHILD; CLINICAL ARTICLE; COLOR VISION TEST; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EVOKED VISUAL RESPONSE; EYE DISEASE; FEMALE; FLUORESCENCE ANGIOGRAPHY; FOLLOW UP; GENE; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; INFANT; INTELLIGENCE QUOTIENT; INTRAOCULAR PRESSURE; KJELLIN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PARAPLEGIA; PERIMETRY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOLOGIC TEST; RETROSPECTIVE STUDY; SCHOOL CHILD; SLIT LAMP; SPG11 GENE; SPG15 GENE; SYMPTOM; VISUAL ACUITY;

ADULT; CONSANGUINITY; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PARAPLEGIA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEINS; RETINAL DEGENERATION; RETINAL DISEASES; RETROSPECTIVE STUDIES; SPASTIC PARAPLEGIA, HEREDITARY; VISUAL ACUITY; YOUNG ADULT;

EID: 79952283056     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2010.07.024     Document Type: Article

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