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

Patterson, EJ; Wilk, M; Langlo, CS; Kasilian, M; Ring, M; Hufnagel, RB; Dubis, AM; ... Carroll, J; + view all (2016) Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE , 57 (8) pp. 3853-3863. 10.1167/iovs.16-19608. Green open access

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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.

Type: Article
Title: Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/iovs.16-19608
Publisher version: http://dx.doi.org/10.1167/iovs.16-19608
Language: English
Additional information: © 2015 Association for Research in Vision and Ophthalmology
Keywords: Science & Technology, Life Sciences & Biomedicine, Ophthalmology, opsin, myopia, adaptive optics, dichromacy, color vision, OPTICAL COHERENCE TOMOGRAPHY, ADAPTIVE OPTICS, HIGH MYOPIA, OPSIN GENE, SCANNING OPHTHALMOSCOPE, RETINITIS-PIGMENTOSA, PIT MORPHOLOGY, DENSITY, MALES, VARIABILITY
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/1506325
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