Luo, X and Cideciyan, AV and Iannaccone, A and Roman, AJ and Ditta, LC and Jennings, BJ and Yatsenko, SA and Sheplock, R and Sumaroka, A and Swider, M and Schwartz, SB and Wissinger, B and Kohl, S and Jacobson, SG
(2015)
Blue cone monochromacy: Visual function and efficacy outcome measures for clinical trials.
PLoS ONE, 10 (4).
Abstract
Background: Blue Cone Monochromacy (BCM) is an X-linked retinopathy caused by mutations in the OPN1LW / OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength sensitive cone opsins. Recent evidence shows sufficient structural integrity of cone photoreceptors in BCM to warrant consideration of a gene therapy approach to the disease. In the present study, the vision in BCM is examined, specifically seeking clinically-feasible outcomes for a future clinical trial. Methods: BCM patients (n = 25, ages 5-72) were studied with kinetic and static chromatic perimetry, full-field sensitivity testing, and eye movement recordings. Vision at the fovea and parafovea was probed with chromatic microperimetry. Results: Kinetic fields with a Goldmann size V target were generally full. Short-wavelength (S-) sensitive cone function was normal or near normal in most patients. Light-adapted perimetry results on conventional background lights were abnormally reduced; 600-nm stimuli were seen by rods whereas white stimuli were seen by both rods and S-cones. Under dark-adapted conditions, 500-nm stimuli were seen by rods in both BCM and normals. Spectral sensitivity functions in the superior retina showed retained rod and S-cone functions in BCM under dark-adapted and light-adapted conditions. In the fovea, normal subjects showed L/M-cone mediation using a 650-nm stimulus under dark-adapted conditions, whereas BCM patients had reduced sensitivity driven by rod vision. Full-field red stimuli on bright blue backgrounds were seen by L/M-cones in normal subjects whereas BCM patients had abnormally reduced and rod-mediated sensitivities. Fixation location could vary from fovea to parafovea. Chromatic microperimetry demonstrated a large loss of sensitivity to red stimuli presented on a cyan adapting background at the anatomical fovea and surrounding parafovea. Conclusions: BCM rods continue to signal vision under conditions normally associated with daylight vision. Localized and retina-wide outcome measures were examined to evaluate possible improvement of L/M-cone-based vision in a clinical trial.
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Article
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Status: |
Published |
Creators/Authors: |
Creators | Email | Pitt Username | ORCID |
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Luo, X | | | | Cideciyan, AV | | | | Iannaccone, A | | | | Roman, AJ | | | | Ditta, LC | | | | Jennings, BJ | | | | Yatsenko, SA | say17@pitt.edu | SAY17 | | Sheplock, R | | | | Sumaroka, A | | | | Swider, M | | | | Schwartz, SB | | | | Wissinger, B | | | | Kohl, S | | | | Jacobson, SG | | | |
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Contributors: |
Contribution | Contributors Name | Email | Pitt Username | ORCID |
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Editor | Sharon, Dror | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
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Date: |
24 April 2015 |
Date Type: |
Publication |
Access Restriction: |
No restriction; Release the ETD for access worldwide immediately. |
Journal or Publication Title: |
PLoS ONE |
Volume: |
10 |
Number: |
4 |
DOI or Unique Handle: |
10.1371/journal.pone.0125700 |
Institution: |
University of Pittsburgh |
Refereed: |
Yes |
Date Deposited: |
23 Aug 2016 14:04 |
Last Modified: |
30 Mar 2021 10:55 |
URI: |
http://d-scholarship.pitt.edu/id/eprint/28483 |
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