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Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial

Mascio, A. A., Roman, A. J., Cideciyan, A. V. , Sheplock, R., Wu, V., Garafalo, A. V., Sumaroka, A., Pirkle, S., Kohl, S., Wissinger, B., Jacobson, S.G. & Barbur, J. L. ORCID: 0000-0002-2187-5004 (2023). Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial. Translational Vision Science & Technology, 12, 25. doi: 10.1167/tvst.12.1.25


PURPOSE: Blue cone monochromacy (BCM) is an X-linked retinopathy due to mutations in the OPN1LW/OPN1MW gene cluster. Symptoms include reduced visual acuity and disturbed color vision. We studied BCM color vision to determine outcome measures for future clinical trials.

METHODS: Patients with BCM and normal-vision participants were examined with Farnsworth-Munsell (FM) arrangement tests and the Color Assessment and Diagnosis (CAD) test. A retrospective case series in 36 patients with BCM (ages 6-70) was performed with the FM D-15 test. A subset of six patients also had Roth-28 Hue and CAD tests.

RESULTS: All patients with BCM had abnormal results for D-15, Roth-28, and CAD tests. With D-15, there was protan-deutan confusion and no bimodal tendency. Roth-28 results reinforced that finding. There was symmetry in color vision metrics between the two eyes and coherence between sessions with the arrangement tests and CAD. Severe abnormalities in red-green sensitivity with CAD were expected. Unexpected were different levels of yellow-blue results with two patterns of abnormal thresholds: moderate elevation in two younger patients and severe elevation in four patients ≥35 years. Coefficients of repeatability and intersession means were tabulated for all test modalities.

CONCLUSIONS: Given understanding of advantages, disadvantages, and complexities of interpretation of results, both an arrangement test and CAD should be useful monitors of color vision through a clinical trial in BCM.

TRANSLATIONAL RELEVANCE: Our pilot studies in BCM of arrangement and CAD tests indicated both were clinically feasible and interpretable in the context of this cone gene disease.

Publication Type: Article
Additional Information: This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Publisher Keywords: clinical trial; color; cone photoreceptor; visual pigment gene mutations; outcome measure
Subjects: R Medicine > RE Ophthalmology
Departments: School of Health & Psychological Sciences > Optometry & Visual Sciences
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Text - Published Version
Available under License Creative Commons Attribution Non-commercial No Derivatives.

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