Document Detail

Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.
MedLine Citation:
PMID:  22661472     Owner:  NLM     Status:  MEDLINE    
PURPOSE: To perform a clinical characterization of Stargardt patients with ABCA4 gene mutation, and to investigate the correlation between the inner and outer segment (IS/OS) junction morphology and visual acuity, fundus lesions, electroretinogram abnormalities, and macular sensitivity.
METHODS: Sixty-one patients with Stargardt disease (STGD) were given a comprehensive ophthalmic examination. Inner-outer photoreceptor junction morphology evaluated by spectral-domain optical coherence tomography was correlated with visual acuity, fundus lesions, fundus autofluorescence, full-field and multifocal electroretinography responses, and microperimetric macular sensitivities. We classified STGD patients into three groups: (1) IS/OS junction disorganization in the fovea, (2) IS/OS junction loss in the fovea, and (3) extensive loss of IS/OS junction. Mutation analysis of the ABCA4 gene was carried out by sequencing the complete coding region.
RESULTS: A significant difference in visual acuity was observed between IS/OS groups 1 and 2 and between IS/OS groups 2 and 3 (P < 0.0001). A significant difference in microperimetry sensitivity was observed between IS/OS groups 2 and 3, and between IS/OS groups 1 and 3 (P < 0.0001). There was also a statistically significant correlation between IS/OS abnormalities and the extent of fundus lesions (Spearman P ≤ 0.01), as well as with the type of ERG and multifocal ERG results (Spearman P ≤ 0.01). Finally, the degree of IS/OS junction preservation showed a statistically significant correlation with the extension of foveal abnormalities assessed by fundus autofluorescence imaging (Spearman P ≤ 0.01). The G1961E mutation was more frequent in the patients without extensive loss of IS/OS junction (P = 0.01) confirming its association with a milder STGD phenotype.
CONCLUSIONS: The results of this study suggest that a comprehensive approach in the examination of Stargardt patients has the potential to improve the understanding of vision loss and may provide a sensitive measure to evaluate the efficacy of future experimental therapies in patients with STGD.
Francesco Testa; Settimio Rossi; Andrea Sodi; Ilaria Passerini; Valentina Di Iorio; Michele Della Corte; Sandro Banfi; Enrico Maria Surace; Ugo Menchini; Alberto Auricchio; Francesca Simonelli
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2012-07-03
Journal Detail:
Title:  Investigative ophthalmology & visual science     Volume:  53     ISSN:  1552-5783     ISO Abbreviation:  Invest. Ophthalmol. Vis. Sci.     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-07-04     Completed Date:  2012-10-16     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  7703701     Medline TA:  Invest Ophthalmol Vis Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  4409-15     Citation Subset:  IM    
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MeSH Terms
ATP-Binding Cassette Transporters / genetics
DNA Mutational Analysis
Fluorescein Angiography
Genetic Therapy
Macular Degeneration / congenital,  genetics,  physiopathology*
Middle Aged
Retina / physiopathology*
Retinal Photoreceptor Cell Inner Segment / pathology*
Retinal Photoreceptor Cell Outer Segment / pathology*
Tomography, Optical Coherence
Visual Acuity / physiology*
Visual Field Tests
Visual Fields / physiology
Young Adult
Grant Support
1 R24 EY019861-01A1/EY/NEI NIH HHS; GGP10199//Telethon; R24 EY019861/EY/NEI NIH HHS
Reg. No./Substance:
0/ABCA4 protein, human

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