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.
Preview |
Text
i1552-5783-63-11-23_1666853993.34957.pdf - Published Version Download (1MB) | Preview |
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 |
Archive Staff Only
 |
View Item |
