The characterization of retinal phenotype in a family with c1qtnf5-related late-onset retinal degeneration

Retina

Volumn 32, Issue 8, 2012, Pages 1643-1651

  Vincent, Ajoy ^a   Munier, Francis L ^b   Vandenhoven, Cynthia C ^a   Wright, Tom ^a   Westall, Carol A ^a   Héon, Elise ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b JULES GONIN EYE HOSPITAL   (Switzerland)

Author keywords

C1QTNF5 protein; choroidal neovascularization; electrooculography; electroretinography; fundus autofluorescence imaging; human; late onset retinal degeneration; macular degeneration; optical coherence tomography; retinal drusen; retinitis pigmentosa; Sorsby fundus dystrophy

Indexed keywords

ADULT; AGED; ANTERIOR EYE SEGMENT; ARTICLE; AUTOFLUORESCENCE IMAGING; BRUCH MEMBRANE; C1QTNF5 GENE; CASE REPORT; CLINICAL FEATURE; COMPUTED TOMOGRAPHY SCANNER; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EQUIPMENT; EYE FUNDUS; FEMALE; GENE; GENETIC ASSOCIATION; HUMAN; IRIS ATROPHY; LATE ONSET RETINAL DEGENERATION; MALE; MOLECULAR DIAGNOSIS; OPHTHALMOLOGY; PEDIGREE; PHENOTYPE; PIGMENT EPITHELIUM; RETINA DEGENERATION; RETINA ROD; SENSORY SYSTEM ELECTROPHYSIOLOGY; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY;

ADULT; AGED; COLLAGEN; CORNEAL DYSTROPHIES, HEREDITARY; DISEASE PROGRESSION; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; FEMALE; HUMANS; MALE; MIDDLE AGED; OPTIC ATROPHY; PEDIGREE; PHENOTYPE; RETINA; RETINAL DEGENERATION; RETINAL DRUSEN; RETINAL PIGMENT EPITHELIUM; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS;

EID: 84865726418     PISSN: 0275004X     EISSN: 15392864     Source Type: Journal    
DOI: 10.1097/IAE.0b013e318240a574     Document Type: Article

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