Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization

Molecular Vision

Volumn 15, Issue , 2009, Pages 1098-1106

  Jacobson, Samuel G ^a   Aleman, Tomas S ^a   Cideciyan, Artur V ^a   Sumaroka, Alexander ^a   Schwartz, Sharon B ^a   Windsor, Elizabeth A M ^a   Swider, Malgorzata ^a   Herrera, Waldo ^a   Stone, Edwin M ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOFLUORESCENCE IMAGING; CASE REPORT; CHILD; CONTROLLED STUDY; DARK ADAPTATION; GENE; GENE MUTATION; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; HYPERMETROPIA; HYPERPIGMENTATION; LAMINOPATHY; LEBER CONGENITAL AMAUROSIS; LEBERCILIN GENE; LIGHT PERCEPTION VISION; NEAR INFRARED REFLECTANCE SPECTROSCOPY; NYSTAGMUS; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; PUPIL REFLEX; PUPILLOMETRY; RETINA BIPOLAR GANGLION CELL; RETINA FOVEA; RETINAL REMODELING; VISION; VISUAL SYSTEM FUNCTION;

ADOLESCENT; ADULT; BLINDNESS; CHILD; CHILD, PRESCHOOL; EYE PROTEINS; HUMANS; INFANT; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUTATION; PHOTORECEPTOR CELLS, VERTEBRATE; PUPIL; RETINA; RETINAL PIGMENT EPITHELIUM; SPECTROSCOPY, NEAR-INFRARED; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 66849099626     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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