Blue cone monochromacy: Visual function and efficacy outcome measures for clinical trials

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).

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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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Details

Item Type:	Article
Status:	Published
Creators/Authors:	Creators Email Pitt Username ORCID 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
Contributors:	Contribution Contributors Name Email Pitt Username ORCID Editor Sharon, Dror UNSPECIFIED UNSPECIFIED UNSPECIFIED
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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