Human retinal disease from AIPL1 gene mutations: Foveal cone loss with minimal macular photoreceptors and rod function remaining

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 1, 2011, Pages 70-79

  Jacobson, Samuel G ^a   Cideciyan, Artur V ^a   Aleman, Tomas S ^a   Sumaroka, Alexander ^a   Roman, Alejandro J ^a   Swider, Malgorzata ^a   Schwartz, Sharon B ^a   Banin, Eyal ^b   Stone, Edwin M ^c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE 1 GENE; CELL LOSS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRORETINOGRAM; EYE EXAMINATION; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; IMAGE ANALYSIS; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MOLECULAR PATHOLOGY; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PHENOTYPE; PHOTORECEPTOR; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOPHYSICS; PUPILLOMETRY; RETINA DEGENERATION; RETINA FOVEA; RETINA MACULA DEGENERATION; RETINA ROD; SCHOOL CHILD; VISUAL ACUITY; VISUAL FIELD; VISUAL IMPAIRMENT; VISUAL STIMULATION; ADOLESCENT; ELECTRORETINOGRAPHY; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PUPIL; RETINA CONE;

AIPL1 PROTEIN, HUMAN; CARRIER PROTEIN;

ADOLESCENT; ADULT; AGED; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; FEMALE; FOVEA CENTRALIS; HUMANS; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PUPIL; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; RETINAL ROD PHOTORECEPTOR CELLS; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS; YOUNG ADULT;

EID: 79952217011     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6127     Document Type: Article

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