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Foveal Cone Structure in Patients With Blue Cone Monochromacy

Patterson, Emily J; Kalitzeos, Angelos; Kane, Thomas M; Singh, Navjit; Kreis, Joseph; Pennesi, Mark E; Hardcastle, Alison J; ... Carroll, Joseph; + view all (2022) Foveal Cone Structure in Patients With Blue Cone Monochromacy. Investigative Ophthalmology & Visual Science , 63 (11) , Article 23. 10.1167/iovs.63.11.23. Green open access

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Abstract

Purpose: Blue cone monochromacy (BCM) is a rare inherited cone disorder in which both long- (L-) and middle- (M-) wavelength sensitive cone classes are either impaired or nonfunctional. Assessing genotype-phenotype relationships in BCM can improve our understanding of retinal development in the absence of functional L- and M-cones. Here we examined foveal cone structure in patients with genetically-confirmed BCM, using adaptive optics scanning light ophthalmoscopy (AOSLO). / Methods: Twenty-three male patients (aged 6-75 years) with genetically-confirmed BCM were recruited for high-resolution imaging. Eight patients had a deletion of the locus control region (LCR), and 15 had a missense mutation-Cys203Arg-affecting the first two genes in the opsin gene array. Foveal cone structure was assessed using confocal and non-confocal split-detection AOSLO across a 300 × 300 µm area, centered on the location of peak cell density. / Results: Only one of eight patients with LCR deletions and 10 of 15 patients with Cys203Arg mutations had analyzable images. Mean total cone density for Cys203Arg patients was 16,664 ± 11,513 cones/mm2 (n = 10), which is, on average, around 40% of normal. Waveguiding cone density was 2073 ± 963 cones/mm2 (n = 9), which was consistent with published histological estimates of S-cone density in the normal eye. The one patient with an LCR deletion had a total cone density of 10,246 cones/mm2 and waveguiding density of 1535 cones/mm2. / Conclusions: Our results show that BCM patients with LCR deletions and Cys203Arg mutations have a population of non-waveguiding photoreceptors, although the spectral identity and level of function remain unknown.

Type: Article
Title: Foveal Cone Structure in Patients With Blue Cone Monochromacy
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/iovs.63.11.23
Publisher version: https://doi.org/10.1167/iovs.63.11.23
Language: English
Additional information: Copyright © 2022 The Authors. This work is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0).
Keywords: Male, Humans, Color Vision Defects, Fovea Centralis, Retinal Cone Photoreceptor Cells, Ophthalmoscopy
UCL classification: 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
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10158590
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