Clinical course of cone dystrophy caused by mutations in the RPGR gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 249, Issue 10, 2011, Pages 1527-1535

  Thiadens, Alberta A H J ^a   Soerjoesing, Gyan G ^a   Florijn, Ralph J ^b   Tjiam, A G ^c   Den Hollander, Anneke I ^d   Van Den Born, L Ingeborgh ^e   Riemslag, Frans C ^e,f   Bergen, Arthur A B ^b   Klaver, Caroline C W ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^c St Oosterschelde Hospital   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ROTTERDAM EYE HOSPITAL   (Netherlands)

^f Bartimeus Institute for the Visually Impaired   (Netherlands)

Author keywords

Clinical course; Cone dystrophy; ERG; Novel mutation; ORF15; RPGR gene

Indexed keywords

GENE PRODUCT; RETINITIS PIGMENTOSA GTPASE REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGE; AGED; ARTICLE; AUTOFLUORESCENCE; BLINDNESS; CARBOXY TERMINAL SEQUENCE; CENTRAL SCOTOMA; COLOR VISION; COLOR VISION DEFECT; DARK ADAPTATION; DAY BLINDNESS; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; ELECTRORETINOGRAPHY; EYE FUNDUS; EYE PHOTOGRAPHY; FAMILY STUDY; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; FUNDUS AUTOFLUORESCENCE; FUNDUS PHOTOGRAPHY; GENDER; GENE; GENE DELETION; GENE MUTATION; GENE SEGREGATION; HETEROZYGOTE; HIGH MYOPIA; HUMAN; LEGAL BLINDNESS; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NIGHT VISION; NYSTAGMUS; ONSET AGE; OPEN READING FRAME; OPEN READING FRAME 15; OPHTHALMOSCOPY; PEDIGREE ANALYSIS; PERIMETRY; PHOTOPIC VISION; PRIORITY JOURNAL; PROGNOSIS; REFRACTION ERROR; RETINA CONE; RETINA DYSTROPHY; RETINA MACULA LUTEA; RETINA MACULOPATHY; RETINA ROD; RETINITIS PIGMENTOSA GTPASE REGULATOR GENE; RPGR GENE; SEQUENCE ANALYSIS; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY; VISUAL FIELD; VISUAL IMPAIRMENT; X CHROMOSOME LINKED DISORDER; X LINKED CONE DYSTROPHY;

ADULT; DARK ADAPTATION; DNA; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FOLLOW-UP STUDIES; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; TIME FACTORS;

EID: 80755136585     PISSN: 0721832X     EISSN: 1435702X     Source Type: Journal    
DOI: 10.1007/s00417-011-1789-3     Document Type: Article

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