Autosomal recessive bestrophinopathy: Differential diagnosis and treatment options

Ophthalmology

Volumn 120, Issue 4, 2013, Pages 809-820

  Boon, Camiel J F ^a,b   Van Den Born, L Ingeborgh ^c   Visser, Linda ^c   Keunen, Jan E E ^a   Bergen, Arthur A B ^d,e   Booij, Judith C ^d   Riemslag, Frans C ^f   Florijn, Ralph J ^d   Van Schooneveld, Mary J ^d,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c ROTTERDAM EYE HOSPITAL   (Netherlands)

^d NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f Bartiméus Institute for the Visually Impaired   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; BESTROPHIN 1; CELL PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AMBLYOPIA; ARTICLE; AUTOSOMAL RECESSIVE BESTROPHINOPATHY; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CASE STUDY; CHILD; CHORIORETINITIS; CHORIORETINOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EYE EXAMINATION; FEMALE; FLUORESCENCE ANGIOGRAPHY; FUNDUS AUTOFLUORESCENCE; GENE FREQUENCY; GENE MUTATION; GENE THERAPY; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GOLDMANN PERIMETRY; GONIOSCOPY; HUMAN; INTRAOCULAR PRESSURE; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; OPHTHALMOSCOPY; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DISEASE; RETINA DYSTROPHY; RETINA MACULA LUTEA; RETROSPECTIVE STUDY; ROD BENDER; SCHOOL CHILD; SLIT LAMP; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY; YAG LASER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; DIAGNOSIS, DIFFERENTIAL; DNA; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; FUNDUS OCULI; GENETIC ASSOCIATION STUDIES; GENETIC THERAPY; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RETINA; RETINAL DISEASES; RETROSPECTIVE STUDIES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; YOUNG ADULT;

EID: 84875699003     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2012.09.057     Document Type: Article

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