Assessing photoreceptor structure in retinitis pigmentosa and usher syndrome

Lynn W. Sun, Ryan D. Johnson, Christopher S. Langlo, Robert F. Cooper, Moataz M. Razeen, Madia C. Russillo, Alfredo Dubra, Thomas B. Connor, Dennis P. Han, Mark Pennesi, Christine N. Kay, David V. Weinberg, Kimberly E. Stepien, Joseph Carroll

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

PURPOSE. The purpose of this study was to examine cone photoreceptor structure in retinitis pigmentosa (RP) and Usher syndrome using confocal and nonconfocal split-detector adaptive optics scanning light ophthalmoscopy (AOSLO). METHODS. Nineteen subjects (11 RP, 8 Usher syndrome) underwent ophthalmic and genetic testing, spectral-domain optical coherence tomography (SD-OCT), and AOSLO imaging. Splitdetector images obtained in 11 subjects (7 RP, 4 Usher syndrome) were used to assess remnant cone structure in areas of altered cone reflectivity on confocal AOSLO. RESULTS. Despite normal interdigitation zone and ellipsoid zone appearance on OCT, foveal and parafoveal cone densities derived from confocal AOSLO images were significantly lower in Usher syndrome compared with RP. This was due in large part to an increased prevalence of non-waveguiding cones in the Usher syndrome retina. Although significantly correlated to best-corrected visual acuity and foveal sensitivity, cone density can decrease by nearly 38% before visual acuity becomes abnormal. Aberrantly waveguiding cones were noted within the transition zone of all eyes and corresponded to intact inner segment structures. These remnant cones decreased in density and increased in diameter across the transition zone and disappeared with external limiting membrane collapse. CONCLUSIONS. Foveal cone density can be decreased in RP and Usher syndrome before visible changes on OCT or a decline in visual function. Thus, AOSLO imaging may allow more sensitive monitoring of disease than current methods. However, confocal AOSLO is limited by dependence on cone waveguiding, whereas split-detector AOSLO offers unambiguous and quantifiable visualization of remnant cone inner segment structure. Confocal and splitdetector thus offer complementary insights into retinal pathology.

Original languageEnglish (US)
Pages (from-to)2428-2442
Number of pages15
JournalInvestigative Ophthalmology and Visual Science
Volume57
Issue number6
DOIs
StatePublished - May 1 2016

Fingerprint

Usher Syndromes
Ophthalmoscopy
Light
Visual Acuity
Retinal Photoreceptor Cell Inner Segment
Retinal Cone Photoreceptor Cells
Retinitis Pigmentosa
Optical Coherence Tomography
Genetic Testing
RHYNS syndrome
Retina
Pathology
Membranes

Keywords

  • Adaptive optics
  • AOSLO
  • Retinitis pigmentosa
  • Split-detector
  • Usher syndrome

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

Sun, L. W., Johnson, R. D., Langlo, C. S., Cooper, R. F., Razeen, M. M., Russillo, M. C., ... Carroll, J. (2016). Assessing photoreceptor structure in retinitis pigmentosa and usher syndrome. Investigative Ophthalmology and Visual Science, 57(6), 2428-2442. https://doi.org/10.1167/iovs.15-18246

Assessing photoreceptor structure in retinitis pigmentosa and usher syndrome. / Sun, Lynn W.; Johnson, Ryan D.; Langlo, Christopher S.; Cooper, Robert F.; Razeen, Moataz M.; Russillo, Madia C.; Dubra, Alfredo; Connor, Thomas B.; Han, Dennis P.; Pennesi, Mark; Kay, Christine N.; Weinberg, David V.; Stepien, Kimberly E.; Carroll, Joseph.

In: Investigative Ophthalmology and Visual Science, Vol. 57, No. 6, 01.05.2016, p. 2428-2442.

Research output: Contribution to journalArticle

Sun, LW, Johnson, RD, Langlo, CS, Cooper, RF, Razeen, MM, Russillo, MC, Dubra, A, Connor, TB, Han, DP, Pennesi, M, Kay, CN, Weinberg, DV, Stepien, KE & Carroll, J 2016, 'Assessing photoreceptor structure in retinitis pigmentosa and usher syndrome', Investigative Ophthalmology and Visual Science, vol. 57, no. 6, pp. 2428-2442. https://doi.org/10.1167/iovs.15-18246
Sun, Lynn W. ; Johnson, Ryan D. ; Langlo, Christopher S. ; Cooper, Robert F. ; Razeen, Moataz M. ; Russillo, Madia C. ; Dubra, Alfredo ; Connor, Thomas B. ; Han, Dennis P. ; Pennesi, Mark ; Kay, Christine N. ; Weinberg, David V. ; Stepien, Kimberly E. ; Carroll, Joseph. / Assessing photoreceptor structure in retinitis pigmentosa and usher syndrome. In: Investigative Ophthalmology and Visual Science. 2016 ; Vol. 57, No. 6. pp. 2428-2442.
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abstract = "PURPOSE. The purpose of this study was to examine cone photoreceptor structure in retinitis pigmentosa (RP) and Usher syndrome using confocal and nonconfocal split-detector adaptive optics scanning light ophthalmoscopy (AOSLO). METHODS. Nineteen subjects (11 RP, 8 Usher syndrome) underwent ophthalmic and genetic testing, spectral-domain optical coherence tomography (SD-OCT), and AOSLO imaging. Splitdetector images obtained in 11 subjects (7 RP, 4 Usher syndrome) were used to assess remnant cone structure in areas of altered cone reflectivity on confocal AOSLO. RESULTS. Despite normal interdigitation zone and ellipsoid zone appearance on OCT, foveal and parafoveal cone densities derived from confocal AOSLO images were significantly lower in Usher syndrome compared with RP. This was due in large part to an increased prevalence of non-waveguiding cones in the Usher syndrome retina. Although significantly correlated to best-corrected visual acuity and foveal sensitivity, cone density can decrease by nearly 38{\%} before visual acuity becomes abnormal. Aberrantly waveguiding cones were noted within the transition zone of all eyes and corresponded to intact inner segment structures. These remnant cones decreased in density and increased in diameter across the transition zone and disappeared with external limiting membrane collapse. CONCLUSIONS. Foveal cone density can be decreased in RP and Usher syndrome before visible changes on OCT or a decline in visual function. Thus, AOSLO imaging may allow more sensitive monitoring of disease than current methods. However, confocal AOSLO is limited by dependence on cone waveguiding, whereas split-detector AOSLO offers unambiguous and quantifiable visualization of remnant cone inner segment structure. Confocal and splitdetector thus offer complementary insights into retinal pathology.",
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AU - Johnson, Ryan D.

AU - Langlo, Christopher S.

AU - Cooper, Robert F.

AU - Razeen, Moataz M.

AU - Russillo, Madia C.

AU - Dubra, Alfredo

AU - Connor, Thomas B.

AU - Han, Dennis P.

AU - Pennesi, Mark

AU - Kay, Christine N.

AU - Weinberg, David V.

AU - Stepien, Kimberly E.

AU - Carroll, Joseph

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N2 - PURPOSE. The purpose of this study was to examine cone photoreceptor structure in retinitis pigmentosa (RP) and Usher syndrome using confocal and nonconfocal split-detector adaptive optics scanning light ophthalmoscopy (AOSLO). METHODS. Nineteen subjects (11 RP, 8 Usher syndrome) underwent ophthalmic and genetic testing, spectral-domain optical coherence tomography (SD-OCT), and AOSLO imaging. Splitdetector images obtained in 11 subjects (7 RP, 4 Usher syndrome) were used to assess remnant cone structure in areas of altered cone reflectivity on confocal AOSLO. RESULTS. Despite normal interdigitation zone and ellipsoid zone appearance on OCT, foveal and parafoveal cone densities derived from confocal AOSLO images were significantly lower in Usher syndrome compared with RP. This was due in large part to an increased prevalence of non-waveguiding cones in the Usher syndrome retina. Although significantly correlated to best-corrected visual acuity and foveal sensitivity, cone density can decrease by nearly 38% before visual acuity becomes abnormal. Aberrantly waveguiding cones were noted within the transition zone of all eyes and corresponded to intact inner segment structures. These remnant cones decreased in density and increased in diameter across the transition zone and disappeared with external limiting membrane collapse. CONCLUSIONS. Foveal cone density can be decreased in RP and Usher syndrome before visible changes on OCT or a decline in visual function. Thus, AOSLO imaging may allow more sensitive monitoring of disease than current methods. However, confocal AOSLO is limited by dependence on cone waveguiding, whereas split-detector AOSLO offers unambiguous and quantifiable visualization of remnant cone inner segment structure. Confocal and splitdetector thus offer complementary insights into retinal pathology.

AB - PURPOSE. The purpose of this study was to examine cone photoreceptor structure in retinitis pigmentosa (RP) and Usher syndrome using confocal and nonconfocal split-detector adaptive optics scanning light ophthalmoscopy (AOSLO). METHODS. Nineteen subjects (11 RP, 8 Usher syndrome) underwent ophthalmic and genetic testing, spectral-domain optical coherence tomography (SD-OCT), and AOSLO imaging. Splitdetector images obtained in 11 subjects (7 RP, 4 Usher syndrome) were used to assess remnant cone structure in areas of altered cone reflectivity on confocal AOSLO. RESULTS. Despite normal interdigitation zone and ellipsoid zone appearance on OCT, foveal and parafoveal cone densities derived from confocal AOSLO images were significantly lower in Usher syndrome compared with RP. This was due in large part to an increased prevalence of non-waveguiding cones in the Usher syndrome retina. Although significantly correlated to best-corrected visual acuity and foveal sensitivity, cone density can decrease by nearly 38% before visual acuity becomes abnormal. Aberrantly waveguiding cones were noted within the transition zone of all eyes and corresponded to intact inner segment structures. These remnant cones decreased in density and increased in diameter across the transition zone and disappeared with external limiting membrane collapse. CONCLUSIONS. Foveal cone density can be decreased in RP and Usher syndrome before visible changes on OCT or a decline in visual function. Thus, AOSLO imaging may allow more sensitive monitoring of disease than current methods. However, confocal AOSLO is limited by dependence on cone waveguiding, whereas split-detector AOSLO offers unambiguous and quantifiable visualization of remnant cone inner segment structure. Confocal and splitdetector thus offer complementary insights into retinal pathology.

KW - Adaptive optics

KW - AOSLO

KW - Retinitis pigmentosa

KW - Split-detector

KW - Usher syndrome

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