May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Structural Correlation Using Adaptive Optics Scanning Laser Ophthalmoscopy in X-Linked Retinoschisis
Author Affiliations & Notes
  • J. L. Duncan
    Ophthalmology, University of California, San Francisco, San Francisco, California
  • Y. Zhang
    School of Optometry, University of California, Berkeley, Berkeley, California
  • S. M. Sundquist
    Ophthalmology, University of California, San Francisco, San Francisco, California
  • A. Solovyev
    Ophthalmology, University of California, San Francisco, San Francisco, California
  • S. Chang
    Ophthalmology, University of California, San Francisco, San Francisco, California
  • N. Smaoui
    National Eye Institute, Bethesda, Maryland
  • A. Roorda
    School of Optometry, University of California, Berkeley, Berkeley, California
  • Footnotes
    Commercial Relationships  J.L. Duncan, None; Y. Zhang, None; S.M. Sundquist, None; A. Solovyev, None; S. Chang, None; N. Smaoui, None; A. Roorda, Optos PLC, C; University of Houston; University of Rochester, P.
  • Footnotes
    Support  NIH Grants EY00415, EY014375, Research to Prevent Blindness, Foundation Fighting Blindness, The Bernard A. Newcomb Macular Degeneration Fund, That Man May See, Inc.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 5391. doi:
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    • Get Citation

      J. L. Duncan, Y. Zhang, S. M. Sundquist, A. Solovyev, S. Chang, N. Smaoui, A. Roorda; Structural Correlation Using Adaptive Optics Scanning Laser Ophthalmoscopy in X-Linked Retinoschisis. Invest. Ophthalmol. Vis. Sci. 2008;49(13):5391.

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

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Abstract

Purpose: : To study macular structure in a patient with X-linked retinoschisis (XLRS) with high-resolution imaging.

Methods: : Best-corrected visual acuity (VA), fundus examination, automated perimetry and fundus-guided microperimetry, optical coherence tomography (OCT), fluorescein angiography (FA) and full-field electroretinography (ERG) were obtained. Molecular analysis of the RS1 gene was performed. Adaptive Optics Scanning Laser Ophthalmoscopy (AOSLO) was used to generate high resolution montages of the macula.

Results: : A 29 year old man with VA of 20/50 OD and 20/63 OS demonstrated foveal schisis without leakage on FA and vitreous veils but no peripheral schisis cavities. Automated and fundus-guided perimetry showed relative scotomas within 5 degrees of fixation. OCT showed a large central cyst with schisis in the outer and inner plexiform layers. The mixed scotopic ERG b-wave was reduced to a greater extent than the a-wave, with a b/a ratio of 0.8. A hemizygous C duplication was present at nucleotide 579 in exon 6 (c.579dupC) in the RS1 gene. This mutation changed isoleucine to histidine at residue 194 (p.Ile194Hisfs) and is predicted to create a frameshift in the retinoschisin protein adding 75 amino acids. The right eye was chosen for AOSLO imaging. Cones and foveal schisis were readily observed across the 7 degree AOSLO image. The preferred retinal locus was displaced 2.5 degrees temporal, at the edge of a large central cyst involving the anatomic fovea. Within the cyst, cone spacing was increased (i.e., reduced cone density), corresponding to a dense scotoma on fundus-guided microperimetry. Outside of the large central cyst, cone spacing was similar to normal but visibility of the contiguous mosaic was disrupted by the edges of the schisis cavities.

Conclusions: : AOSLO imaging demonstrated foveal schisis and cone structure in a patient with XLRS. Cone spacing was increased within a large cyst at the anatomic fovea, but nearly normal beginning at 2.5 degrees eccentricity. This study presents the first microscopic images of cones in a patient with a known mutation in the RS1 gene. Such images should provide a sensitive measure of the effect of this mutation on cone viability during the course of disease progression.

Keywords: retinal degenerations: hereditary • imaging/image analysis: clinical • macula/fovea 
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