Cone-rod dystrophy can be a manifestation of Danon disease

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 250, Issue 5, 2012, Pages 769-774

  Thiadens, Alberta A H J ^a   Slingerland, Niki W R ^a   Florijn, Ralph J ^b   Visser, Gerhard H ^a   Riemslag, Frans C ^c,d   Klaver, Caroline C W ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^c Bartimeus Institute for the Visually Impaired   (Netherlands)

^d ROTTERDAM EYE HOSPITAL   (Netherlands)

Author keywords

Cone rod dystrophy . LAMP2 gene . Genotype phenotype correlations . RPE pathology. Danon disease

Indexed keywords

ARGININE; GLYCINE; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MEMBRANE PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BLINDNESS; CASE REPORT; CENTRAL SCOTOMA; COLOR VISION; DANON DISEASE; DISEASE SEVERITY; ELECTRORETINOGRAPHY; EYE PHOTOGRAPHY; FAMILY STUDY; GENE MUTATION; HUMAN; LAMP2 GENE; MALE; MEDICAL RECORD REVIEW; NIGHT VISION; NUCLEOTIDE SEQUENCE; PERIMETRY; PHENOTYPE; PHOTOPIC VISION; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RELATIVE; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY; RPGR GENE; SEQUENCE ANALYSIS; SIBLING; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL FIELD; VISUAL IMPAIRMENT; VISUAL SYSTEM EXAMINATION;

AGED; ELECTRORETINOGRAPHY; EYE PROTEINS; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE IIB; HUMANS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; SIBLINGS; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS;

EID: 84862901711     PISSN: 0721832X     EISSN: 1435702X     Source Type: Journal    
DOI: 10.1007/s00417-011-1857-8     Document Type: Article

References (9)

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