Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: Assessment of 21-year data management

Ophthalmic Epidemiology

Volumn 20, Issue 1, 2013, Pages 13-25

  Bocquet, Beatrice ^a,b,c   Lacroux, Annie ^a,b,c   Surget, Marie Odile ^a,b,c   Baudoin, Corinne ^a   Marquette, Virginie ^a   Manes, Gael ^b,c   Hebrard, Maxime ^b,c   Sénéchal, Audrey ^b,c   Delettre, Cecile ^b,c   Roux, Anne Francoise ^a,c   Claustres, Mireille ^a,c   Dhaenens, Claire Marie ^d,e   Rozet, Jean Michel ^f,g   Perrault, Isabelle ^f,g   Bonnefont, Jean Paul ^f,g   Kaplan, Josseline ^f,g   Dollfus, Helene ^h   Amati Bonneau, Patrizia ^i,j   Bonneau, Dominique ^i,j   Reynier, Pascal ^i,j   Audo, Isabelle ^k,l,m   Zeitz, Christina ^k,l,m   Sahel, José Alain ^k,l,m   Paquis Flucklinger, Veronique ⁿ   Calvas, Patrick ^o   Arveiler, Benoit ^p,q   Kohl, Suzanne ^r   Wissinger, Bernd ^r   Blanchet, Catherine ^a,b   Meunier, Isabelle ^a,b,c   Hamel, Christian P ^a,b,c   more..

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b HÔPITAL SAINT ELOI   (France)

^c UNIV MONTPELLIER   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e UNIV LILLE   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h UNIVERSITY HOSPITAL OF STRASBOURG   (France)

ⁱ ANGERS UNIVERSITY HOSPITAL   (France)

^j INSERM   (France)

^k INSTITUT DE LA VISION   (France)

^l SORBONNE UNIVERSITÉ   (France)

^m CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

ⁿ CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^o TOULOUSE UNIVERSITY HOSPITAL   (France)

^p BORDEAUX UNIVERSITY HOSPITAL   (France)

^q UNIVERSITÉ DE BORDEAUX   (France)

^r UNIVERSITY OF TÜBINGEN   (Germany)

more..

Author keywords

Inherited optic neuropathies; Inherited retinal dystrophies; Macular dystrophy; Molecular diagnosis; Pigmentary retinopathy

Indexed keywords

ANIRIDIA; ARTICLE; COLOBOMA; CONGENITAL NYSTAGMUS; CONGENITAL RUBELLA SYNDROME; FRANCE; GENE SEQUENCE; HUMAN; INFORMATION PROCESSING; INHERITED RETINAL DYSTROPHY; LEBER CONGENITAL AMAUROSIS; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MICROPHTHALMIA; MOLECULAR DIAGNOSIS; MORBIDITY; OPTIC NERVE DISEASE; OUTPATIENT DEPARTMENT; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; PTOSIS; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINA MACULA VITELLIFORM DEGENERATION; RETINA MACULOPATHY; RETINITIS PIGMENTOSA; RETROLENTAL FIBROPLASIA; STARGARDT DISEASE; TELANGIECTASIA; TUBEROUS SCLEROSIS; USHER SYNDROME; WAARDENBURG SYNDROME;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; FRANCE; HUMANS; INFANT; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; MYOSINS; NERVE TISSUE PROTEINS; OPTIC NERVE DISEASES; POLYMERASE CHAIN REACTION; RETINAL DYSTROPHIES; YOUNG ADULT;

EID: 84873019499     PISSN: 09286586     EISSN: 17445086     Source Type: Journal    
DOI: 10.3109/09286586.2012.737890     Document Type: Article

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