Stargardt disease with preserved central vision: Identification of a putative novel mutation in ATP-binding cassette transporter gene

Acta Ophthalmologica

Volumn 89, Issue 3, 2011, Pages

  Fujinami, Kaoru ^a   Akahori, Masakazu ^b   Fukui, Masaki ^a   Tsunoda, Kazushige ^a   Iwata, Takeshi ^b   Miyake, Yozo ^a,c  

^a National Hospital Organization   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^c AICHI SHUKUTOKU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; AGED; CASE REPORT; CENTRAL SCOTOMA; DNA SEQUENCE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; LETTER; MALE; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PHOTOPHOBIA; PRIORITY JOURNAL; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA FOVEA; RETINA PIGMENT DEGENERATION; STARGARDT DISEASE; VISUAL ACUITY;

AGED; ATP-BINDING CASSETTE TRANSPORTERS; CORNEAL DYSTROPHIES, HEREDITARY; ELECTRORETINOGRAPHY; EXONS; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; HUMANS; MALE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS;

EID: 79954993016     PISSN: 1755375X     EISSN: 17553768     Source Type: Journal    
DOI: 10.1111/j.1755-3768.2009.01848.x     Document Type: Letter

References (6)

1. Allikmets R, (1997): A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 17: 122. (Pubitemid 27377547)
2. Briggs CE, Rucinski D, Rosenfeld PJ, Hirose T, Berson EL, &, Dryja TP, (2001): Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest Ophthalmol Vis Sci 42: 2229-2236. (Pubitemid 32848851)
3. Fukui T, Yamamoto S, Nakano K, et al., (2002): ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci 43: 2819-2824. (Pubitemid 34977027)
4. Lewis RA, Shroyer NF, Singh N, et al., (1999): Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet 64: 422-434. (Pubitemid 129500525)
5. Rotenstreich Y, Fishman GA, &, Anderson RJ, (2003): Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. Ophthalmology 110: 1151-1158. (Pubitemid 36676647)
6. Webster AR, Heon E, Lotery AJ, et al., (2001): An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci 42: 1179-1189. (Pubitemid 32381955)