Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1

JAMA Ophthalmology

Volumn 131, Issue 10, 2013, Pages 1314-1323

  Dessalces, Elodie ^a   Bocquet, Béatrice ^b,c   Bourien, Jérôme ^b,c   Zanlonghi, Xavier ^d   Verdet, Robert ^e   Meunier, Isabelle ^a,b,c   Hamel, Christian P ^a,b,c  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b HÔPITAL SAINT ELOI   (France)

^c Montpellier University Medical Center   (France)

^d Clinique Sourdille   (France)

^e Private Practice   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EXON; FEMALE; FOLLOW UP; FUNDUS CAMERA; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HOMOZYGOTE; HUMAN; MALE; MANUAL PERIMETER; MOLECULAR PATHOLOGY; MOROCCO; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; OCULOPLETHYSMOGRAPHY; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; OPTICAL COHERENCE TOMOGRAPHY DEVICE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA FOVEA; RETINITIS PIGMENTOSA; RETINITIS PUNCTATA ALBESCENS; RLBP1 GENE; SCHOOL CHILD; VISUAL ACUITY; VISUAL FIELD; VISUAL FIELD DEFECT;

ADOLESCENT; ADULT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DARK ADAPTATION; DISEASE PROGRESSION; ELECTRORETINOGRAPHY; EXONS; FEMALE; FOVEA CENTRALIS; HUMANS; MALE; MUTATION; OPHTHALMOSCOPY; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DISEASES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS; YOUNG ADULT;

EID: 84885941538     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.4476     Document Type: Article

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