Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype

Ophthalmology

Volumn 121, Issue 9, 2014, Pages 1773-1782

  Tsang, Stephen H ^a,b   Burke, Tomas ^a,c   Oll, Maris ^a,d   Yzer, Suzanne ^a,e   Lee, Winston ^a   Xie, Yajing ^a   Allikmets, Rando ^a,b  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b Department of Medicine   (United States)

^c STOKE MANDEVILLE HOSPITAL   (United Kingdom)

^d UNIVERSITY OF TARTU   (Estonia)

^e ROTTERDAM EYE HOSPITAL   (Netherlands)

Author keywords

Abbreviations and Acronyms; CME; cystoid macular edema; electroretinogram; ERG; FAF; fundus autofluorescence; LCA; Leber congenital amaurosis; microperimetry 1; MP 1; multi PDZ domain protein 1; MUPP1; retinal pigment epithelium; retinitis pigmentosa; RP; RPE; SD OCT; single nucleotide polymorphism; SNP; spectral domain optical coherence tomography

Indexed keywords

ACETAZOLAMIDE; CRB1 PROTEIN; NEPAFENAC; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOFLUORESCENCE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL EVALUATION; CLINICAL EXAMINATION; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ELECTRORETINOGRAM; EPIRETINAL MEMBRANE; EXOME; EYE EXAMINATION; EYE FUNDUS; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INDEL MUTATION; MACULAR THICKNESS; MALE; MIDDLE AGED; MISSENSE MUTATION; MYOPIA; OBSERVATIONAL STUDY; OPHTHALMOSCOPY; OPTIC DISK; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN DEFECT; RETINA MACULA CYSTOID EDEMA; RETINA MACULA DEGENERATION; RETINA MACULA EDEMA; RETINA MACULA LUTEA; RETINA MACULOPATHY; RETINAL THICKNESS; SIBLING; SLIT LAMP; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISION; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADULT; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; HUMANS; MACULAR DEGENERATION; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 84906936964     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2014.03.010     Document Type: Article

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