Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene

European Journal of Ophthalmology

Volumn 22, Issue 2, 2012, Pages 254-258

  Titah, Salah Mohamed Cherif ^a,b,c   Meunier, Isabelle ^a,b,c   Blanchet, Catherine ^a,b,c   Lopez, Severine ^a   Rondouin, Gerard ^a   Lenaers, Guy ^b,c   Amati Bonneau, Patrizia ^d   Reynier, Pascal ^d   Paquis Flucklinger, Veronique ^e   Hamel, Christian P ^a,b,c  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b Montpellier University Medical Center   (France)

^c UNIV MONTPELLIER   (France)

^d ANGERS UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY OF NICE SOPHIA ANTIPOLIS   (France)

Author keywords

Cataract; Optic atrophy; Optic neuropathy; WFS1; Wolfram syndrome

Indexed keywords

DNA;

ADULT; ARTICLE; ASYMPTOMATIC DISEASE; AUDIOMETRY; CASE REPORT; CATARACT; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA SEQUENCE; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE DETECTION; HUMAN; INTRAOCULAR PRESSURE; MEDICAL HISTORY; MOLECULAR PATHOLOGY; MYDRIASIS; NUCLEOTIDE SEQUENCE; OPA1 GENE; OPA3 GENE; OPTIC NERVE DISEASE; OPTICAL COHERENCE TOMOGRAPHY; PERCEPTION DEAFNESS; PHENOTYPE; PRESSURE MEASUREMENT; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLIT LAMP; VISUAL ACUITY; VISUAL FIELD; WOLFRAM SYNDROME 1 GENE;

EID: 84862701839     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.5301/EJO.2011.8370     Document Type: Article

References (18)

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