Patterson, EJ;
Langlo, CS;
Georgiou, M;
Kalitzeos, A;
Pennesi, ME;
Neitz, J;
Hardcastle, AJ;
... Carroll, J; + view all
(2021)
Comparing retinal structure in patients with achromatopsia and blue cone monochromacy using optical coherence tomography.
Ophthalmology Science
, Article 100047. 10.1016/j.xops.2021.100047.
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Abstract
PURPOSE: To compare foveal hypoplasia and the appearance of the ellipsoid zone (EZ) at the fovea in patients with genetically confirmed achromatopsia (ACHM) and blue cone monochromacy (BCM). DESIGN: Retrospective, multi-center observational study. SUBJECTS: Molecularly confirmed patients with ACHM (n = 89) and BCM (n = 33). METHODS: We analyzed high-resolution spectral domain optical coherence tomography (SD-OCT) images of the macula from aforementioned patients with BCM. Three observers independently graded SD-OCT images for foveal hypoplasia (i.e. retention of one or more inner retinal layers at the fovea) and four observers judged the integrity of the EZ at the fovea, based on an established grading scheme. These measures were compared with previously published data from the ACHM patients. MAIN OUTCOME MEASURES: Presence of foveal hypoplasia and EZ grade. RESULTS: Foveal hypoplasia was significantly more prevalent in ACHM than in BCM (p<0.001). In addition, we observed a significant difference in the distribution of EZ grades between ACHM and BCM, with grade II EZ being by far the most common phenotype in BCM (61% of patients). In contrast, ACHM patients had a relatively equal prevalence of EZ grades I, II, and IV. Interestingly, grade IV EZ was 2.6 times more prevalent in ACHM compared to BCM, while grade V EZ (macular atrophy) was present in 3% of both the ACHM and BCM cohorts. CONCLUSIONS: The higher incidence of foveal hypoplasia in ACHM than BCM supports a role for cone activity in foveal development. Although there are differences in EZ grades between these conditions, the degree of overlap suggests EZ grade is not sufficient for definitive diagnosis, in contrast to previous reports. Analysis of additional OCT features in similar cohorts may reveal differences with greater diagnostic value. Finally, the extent to which foveal hypoplasia or EZ grade is prognostic for therapeutic potential in either group remains to be seen, but motivates further study.
| Type: | Article |
|---|---|
| Title: | Comparing retinal structure in patients with achromatopsia and blue cone monochromacy using optical coherence tomography |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.xops.2021.100047 |
| Publisher version: | https://doi.org/10.1016/j.xops.2021.100047 |
| Language: | English |
| Additional information: | This work is licensed under a CC BY 4.0 License. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices 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-pp.ucl.ac.uk/id/eprint/10132389 |
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