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Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3853-63. doi: 10.1167/iovs.16-19608.

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.

Author information

Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
UCL Institute of Ophthalmology, London, United Kingdom 4Moorfields Eye Hospital, London, United Kingdom.
Department of Pediatrics, Division of Pediatric Ophthalmology, University of Cincinnati and Cincinnati Children's Hospital, Cincinnati, Ohio, United States.
UCL Institute of Ophthalmology, London, United Kingdom.
Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States.
Department of Ophthalmology, Rigshospitalet and Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Great River Eye Clinic, Crosby, Minnesota, United States.
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States 9Department of Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States 10Department of Cell Biology, Neurobiology, & Anatomy, Medical Coll.
Department of Ophthalmology, University of Washington, Seattle, Washington, United States.



Mutations in the coding sequence of the L and M opsin genes are often associated with X-linked cone dysfunction (such as Bornholm Eye Disease, BED), though the exact color vision phenotype associated with these disorders is variable. We examined individuals with L/M opsin gene mutations to clarify the link between color vision deficiency and cone dysfunction.


We recruited 17 males for imaging. The thickness and integrity of the photoreceptor layers were evaluated using spectral-domain optical coherence tomography. Cone density was measured using high-resolution images of the cone mosaic obtained with adaptive optics scanning light ophthalmoscopy. The L/M opsin gene array was characterized in 16 subjects, including at least one subject from each family.


There were six subjects with the LVAVA haplotype encoded by exon 3, seven with LIAVA, two with the Cys203Arg mutation encoded by exon 4, and two with a novel insertion in exon 2. Foveal cone structure and retinal thickness was disrupted to a variable degree, even among related individuals with the same L/M array.


Our findings provide a direct link between disruption of the cone mosaic and L/M opsin variants. We hypothesize that, in addition to large phenotypic differences between different L/M opsin variants, the ratio of expression of first versus downstream genes in the L/M array contributes to phenotypic diversity. While the L/M opsin mutations underlie the cone dysfunction in all of the subjects tested, the color vision defect can be caused either by the same mutation or a gene rearrangement at the same locus.

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