April 2014
Volume 55, Issue 13
ARVO Annual Meeting Abstract  |   April 2014
Identification of 4 novel mutations in the ABCA4 gene in brazilian patients with Stargardt disease type I
Author Affiliations & Notes
  • Rafael Purissimo
    Cerof, Goiania, Brazil
  • Marcos P Avila
    Cerof, Goiania, Brazil
  • John Chiang
    Casey Molecular Diagnostic Laboratory, Casey Eye Institute, Portland, OR
  • Leticia Dourado Alves
    Cerof, Goiania, Brazil
  • Luiz G Freitas
    Cerof, Goiania, Brazil
  • Ricardo C Cruvinel
    Cerof, Goiania, Brazil
  • Claudia Sousa
    Cerof, Goiania, Brazil
  • Carolina B Paiva
    Cerof, Goiania, Brazil
  • Rafael Yamamoto
    Cerof, Goiania, Brazil
  • Luis Alexandre Rassi Gabriel
    Cerof, Goiania, Brazil
  • Footnotes
    Commercial Relationships Rafael Purissimo, None; Marcos Avila, None; John Chiang, None; Leticia Dourado Alves, None; Luiz Freitas, None; Ricardo Cruvinel, None; Claudia Sousa, None; Carolina Paiva, None; Rafael Yamamoto, None; Luis Gabriel, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 3254. doi:
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      Rafael Purissimo, Marcos P Avila, John Chiang, Leticia Dourado Alves, Luiz G Freitas, Ricardo C Cruvinel, Claudia Sousa, Carolina B Paiva, Rafael Yamamoto, Luis Alexandre Rassi Gabriel; Identification of 4 novel mutations in the ABCA4 gene in brazilian patients with Stargardt disease type I. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3254.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: To present 4 novel mutations (3 frameshift and 1 missense) in the ABCA4 gene identified in brazilian patients with typical Stargardt disease type I.

Methods: Ophthalmic examination was performed. Best corrected visual acuity (BCVA) was done with the Snellen chart. Retinography, (TRC50DX Topcon) and spectralis optical coherence tomography-OCT (Heidelberg Engineering Inc) were performed. Direct testing for mutations in the ABCA4 gene was performed by PCR amplification and bidirectional DNA sequencing of all coding exons and exon/intron boundaries in a CLIA certified laboratory. The results were analyzed and compared to the NCBI reference sequence NM_000350.2. The bioinformatic tools Polyphen-2 and Mutation Taster were used to predict the effect of the missense mutation on the protein.

Results: BCVA range was from 20/100 to 20/800 in all patients. Retinography revealed typical macular beaten-bronze appearence, flecks in the younger patients, and dark choroid sign in all cases. The OCT showed a decreased foveal thickness on three patients. The ABCA4 sequencing identified the following novel mutations: homozygous c.2007G>C:p.M669I; heterozygous c.180_delG; heterozygous c.2782insG; and homozygous c.6471_delC. The novel missense mutation was predicted as disease causing by Polyphen-2 and Mutation Taster.

Conclusions: Herein we’ve described 4 novel mutations in ABCA4 in brazilian patients with Stargardt disease, suggesting the existence of a different ABCA4 mutation prevalence in Brazil.

Keywords: 539 genetics • 696 retinal degenerations: hereditary • 702 retinitis  

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