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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

1
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
2
Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
3
UCL Institute of Ophthalmology, London, United Kingdom 4Moorfields Eye Hospital, London, United Kingdom.
4
Department of Pediatrics, Division of Pediatric Ophthalmology, University of Cincinnati and Cincinnati Children's Hospital, Cincinnati, Ohio, United States.
5
UCL Institute of Ophthalmology, London, United Kingdom.
6
Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States.
7
Department of Ophthalmology, Rigshospitalet and Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
8
Great River Eye Clinic, Crosby, Minnesota, United States.
9
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.
10
Department of Ophthalmology, University of Washington, Seattle, Washington, United States.

Abstract

PURPOSE:

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.

METHODS:

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.

RESULTS:

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.

CONCLUSIONS:

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.

PMID:
27447086
PMCID:
PMC4968428
DOI:
10.1167/iovs.16-19608
[Indexed for MEDLINE]
Free PMC Article

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