April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
Celluar Origin of Fundus Autofluorescence in Patients and Mice With Defective NR2E3 Gene
Author Affiliations & Notes
  • N.-K. Wang
    Ophthalmology, Columbia Univ Med Center, New York, New York
    Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan
  • H. Fine
    Ophthalmology, Columbia Univ Med Center, New York, New York
  • S. Chang
    Ophthalmology, Columbia Univ Med Center, New York, New York
  • C. Chou
    Ophthalmology, Columbia Univ Med Center, New York, New York
  • W. Cella
    Ophthalmology, Columbia Univ Med Center, New York, New York
  • J. Tosi
    Ophthalmology, Columbia Univ Med Center, New York, New York
  • C.-S. Lin
    Ophthalmology, Columbia Univ Med Center, New York, New York
  • T. Nagasaki
    Ophthalmology, Columbia Univ Med Center, New York, New York
  • S. H. Tsang
    Ophthalmology, Columbia Univ Med Center, New York, New York
  • Footnotes
    Commercial Relationships  N.-K. Wang, None; H. Fine, None; S. Chang, Alcon Surgical, E; C. Chou, None; W. Cella, None; J. Tosi, None; C.-S. Lin, None; T. Nagasaki, None; S.H. Tsang, None.
  • Footnotes
    Support  NIH Grant EY018213; AUPO; Foundation Fighting Blindness; Burroughs-Wellcome
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 970. doi:
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    • Get Citation

      N.-K. Wang, H. Fine, S. Chang, C. Chou, W. Cella, J. Tosi, C.-S. Lin, T. Nagasaki, S. H. Tsang; Celluar Origin of Fundus Autofluorescence in Patients and Mice With Defective NR2E3 Gene. Invest. Ophthalmol. Vis. Sci. 2009;50(13):970.

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

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Abstract

Purpose: : To characterize new clinical features in a family with enhanced S-cone syndrome (ESCS) and investigate the pathogenesis of these clinical features in the homozygous NR2E3rd7 (rd7) mutant mice.

Methods: : Four patients from an affected family were included for genotypic and phenotypic study. Eye tissues from rd7 mice were used to delineate the relationship between macrophages and autofluorescent material by immunohistochemistry (IHC) staining.

Results: : Homozygous R311Q mutations in NR2E3 were detected in this family. Color photographs revealed that white dots do not overlay with hyperautofluorescent spots seen in autofluorescence imaging of the macula. OCT showed rosette-like lesions similar to those found in rd7 mice histology sections. From IHC analysis, we observed that F4/80 (a pan macrophage marker), and autofluorescence were co-localized to the same cells within the retina rosettes (Figures).

Conclusions: : Retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice. The macrophages contained autofluorescent materials in the retinal rosettes of rd7 mice. Our data suggest that macrophage infiltration is likely to contribute to the hyper-autofluorescent spots found in our patients.

Keywords: retinal degenerations: cell biology • photoreceptors 
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