4.0 Article

Early Structural Anomalies Observed by High-Resolution Imaging in Two Related Cases of Autosomal-Dominant Retinitis Pigmentosa

Journal

OPHTHALMIC SURGERY LASERS & IMAGING RETINA
Volume 45, Issue 5, Pages 469-473

Publisher

SLACK INC
DOI: 10.3928/23258160-20140908-01

Keywords

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Funding

  1. NIH/NEI [R01 EY018213]
  2. Hallym University Research Fund [HURF-2013-11]
  3. Research to Prevent Blindness
  4. Foundation Fighting Blindness
  5. Schneeweiss Stargardt Fund
  6. Starr Foundation
  7. Bernard Becker-Association of University Professors in Ophthalmology-Research to Prevent Blindness Award
  8. Dennis W. Jahnigen Award from the American Geriatrics Society
  9. Crowley Family Fund
  10. Joel Hoffman Fund
  11. Gale and Richard Siegel Stem Cell Fund
  12. Charles Culpeper Scholarship
  13. Schneeweiss Stem Cell Fund
  14. Irma T. Hirschl Charitable Trust
  15. Bernard and Anne Spitzer Stem Cell Fund
  16. Barbara & Donald Jonas Family Fund
  17. Professor Gertrude Rothschild Stem Cell Foundation

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The authors report the use of adaptiveoptics scanning laser ophthalmoscopy (AO-SLO) to investigate RHO, D190N autosomal-dominant retinitis pigmentosa in two siblings (11 and 16 years old, respectively). Each patient exhibited distinct hyperautofluorescence patterns in which the outer borders corresponded to inner segment ellipsoid band disruption. Areas within the hyperautofluorescence patterns exhibited normal photoreceptor outer segments and retinal pigment epithelium. However, AO-SLO imaging revealed noticeable spacing irregularities in the cone mosaic. AO-SLO allows researchers to characterize retinal structural abnormalities with precision so that early structural changes in retinitis pigmentosa can be identified and reconciled with genetic findings.

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