May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Parapapillary Retina Is Spared Retinal Degeneration in Human ABCA4 Disease
Author Affiliations & Notes
  • A.V. Cideciyan
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA
  • M. Swider
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA
  • T.S. Aleman
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA
  • A. Sumaroka
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA
  • S.B. Schwartz
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA
  • M.I. Roman
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA
  • A.H. Milam
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA
  • J. Bennett
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA
  • E.M. Stone
    Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, IA
  • S.G. Jacobson
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA
  • Footnotes
    Commercial Relationships  A.V. Cideciyan, None; M. Swider, None; T.S. Aleman, None; A. Sumaroka, None; S.B. Schwartz, None; M.I. Roman, None; A.H. Milam, None; J. Bennett, None; E.M. Stone, None; S.G. Jacobson, None.
  • Footnotes
    Support  NIH/NEI, Macula Vision Research Fndn, Fndn Fighting Blindness, Macular Disease Fndn, FM Kirby Fndn, Mackall Fndn, RPB
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 2976. doi:
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      A.V. Cideciyan, M. Swider, T.S. Aleman, A. Sumaroka, S.B. Schwartz, M.I. Roman, A.H. Milam, J. Bennett, E.M. Stone, S.G. Jacobson; Parapapillary Retina Is Spared Retinal Degeneration in Human ABCA4 Disease . Invest. Ophthalmol. Vis. Sci. 2006;47(13):2976.

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

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Abstract

Purpose: : To study regional topography of disease in patients with ABCA4–associated retinal degenerations.

Methods: : Patients with Stargardt disease or cone–rod dystrophy and disease–causing variants in the ABCA4 gene were included. Fixation location was determined under fundus visualization in patients with central scotomas, and central cone–mediated vision was measured using computerized static perimetry in patients with retained foveal vision. Autofluorescence (AF) images were obtained and local heterogeneity was quantified using run–length analysis. Intensity and run–length data in the parapapillary region were transformed into pseudoprofiles using semi–polar integral analysis. Parapapillary retina of an eye donor with ungenotyped Stargardt disease was examined microscopically.

Results: : AF images ranged from normal, to spatially homogenous abnormal increase of intensity, to a spatially heterogenous speckled pattern, to variably sized patches of low intensity. Parafoveal abnormalities in AF intensity and/or heterogeneity appeared to implicate this region as the one with the greatest or earliest vulnerability to ABCA4 disease. In contrast, a parapapillary ring of normal–appearing AF was visible at all disease stages. Quantitative analysis of the intensity and texture properties of AF images showed the preserved region to be an annulus, at least 0.6 mm wide, surrounding the optic nerve head. A similar region of relatively preserved photoreceptor nuclei was apparent in the donor retina. In patients with foveal fixation, there was better cone sensitivity at a parapapillary locus in the nasal retina than at the same eccentricity in the temporal retina. In patients with eccentric fixation, ∼30% had a preferred retinal locus in the parapapillary retina.

Conclusions: : Human retinal degenerations caused by ABCA4 mutations spare the structure of retina and RPE in a circular parapapillary region that commonly serves as the preferred fixation locus when central vision is lost. The retina between fovea and optic nerve head could serve as a convenient, accessible, and informative region for structural and functional studies to determine natural history or outcome of therapy in ABCA4–associated disease.

Keywords: retinal degenerations: hereditary • imaging/image analysis: clinical • optic disc 
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