Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness

Ophthalmic Genetics

Volumn 35, Issue 1, 2014, Pages 51-56

  Huynh, Nancy ^a   Jeffrey, Brett G ^a   Turriff, Amy ^a   Sieving, Paul A ^a   Cukras, Catherine A ^a  

^a NATIONAL EYE INSTITUTE   (United States)

Author keywords

ABCA4; Congenital stationary night blindness; Electronegative ERG; GRM6; Stargardt disease

Indexed keywords

GENOMIC DNA;

ABCA4 GENE; ADULT; AMINO ACID SUBSTITUTION; ANALYTICAL PARAMETERS; ARTICLE; ASTIGMATISM; AUTOFLUORESCENCE IMAGING; B WAVE; CASE REPORT; CENTRAL SCOTOMA; COLOR VISION; CONGENITAL STATIONARY NIGHT BLINDNESS; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; EYE EXAMINATION; EYE PHOTOGRAPHY; EYE REFRACTION; FEMALE; FOLLOW UP; GENE; GENE DELETION; GENETIC SCREENING; GRM6 GENE; HUMAN; INTRAOCULAR PRESSURE; MIDDLE AGED; MISSENSE MUTATION; NIGHT BLINDNESS; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RARE DISEASE; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; STARGARDT DISEASE; VISUAL ACUITY; VISUAL FIELD;

ATP-BINDING CASSETTE TRANSPORTERS; COLOR VISION; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MACULAR DEGENERATION; MIDDLE AGED; MUTATION, MISSENSE; MYOPIA; NIGHT BLINDNESS; OPEN READING FRAMES; POLYMERASE CHAIN REACTION; RECEPTORS, GLUTAMATE; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS;

EID: 84893533985     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2013.865762     Document Type: Article

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