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Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations

Patterson, EJ; Kalitzeos, A; Kasilian, M; Gardner, JC; Neitz, J; Hardcastle, AJ; Neitz, M; ... Michaelides, M; + view all (2018) Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations. Investigative Ophthalmology & Visual Science , 59 (10) pp. 4238-4248. 10.1167/iovs.18-24699. Green open access

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Abstract

PURPOSE: To assess residual cone structure in subjects with mutations in exon 2, 3, and 4 of the OPN1LW or OPN1MW opsin. METHODS: Thirteen males had their OPN1LW/OPN1MW opsin genes characterized. The cone mosaic was imaged using both confocal and nonconfocal split-detection adaptive optics scanning light ophthalmoscopy (AOSLO), and retinal thickness was evaluated using optical coherence tomography (OCT). Six subjects completed serial imaging over a maximum period of 18 months and cone density was measured across imaging sessions. RESULTS: Ten subjects had an OPN1LW/OPN1MW "interchange" opsin mutation designated as LIAVA or LVAVA, which both introduce exon 3 splicing defects leading to a lack of functional photopigment in cones expressing LIAVA and greatly reduced functional photopigment in cones expressing LVAVA. Despite disrupted cone reflectivity and reduced numerosity, residual inner segments could be visualized. Similar patterns were observed in individuals with an exon 2 insertion, or an exon 4 splice defect, both of which are also expected to produce cones that are devoid of functional opsin protein. OCT revealed variably reduced retinal thickness. A significant inverse relationship was found between the proportion of waveguiding cones and axial length. CONCLUSIONS: Split-detection imaging revealed that the altered appearance of the cone mosaic in confocal images for subjects with exon 2, 3, and 4 mutations was generally due to disrupted waveguiding, rather than structural loss, making them possible candidates for gene therapy to restore cone function. The relative fraction of waveguiding cones was highly variable across subjects, which appears to influence emmetropization in these subjects.

Type: Article
Title: Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/iovs.18-24699
Publisher version: http://dx.doi.org/10.1167/iovs.18-24699
Language: English
Additional information: This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Keywords: myopia, color blindness, photoreceptor, retinal imaging
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/10054891
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