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Phenotypic expressions of the optic disc in primary open-angle glaucoma

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Abstract

Background

Which phenotypes are we able to recognize in the optic nerve of patients with primary open angle glaucoma?

Methods

Retrospective interventional case series. 885 eyes from 885 patients at an outpatient tertiary care centre who met specified criteria for POAG were included. Disc photographs were classified by three glaucoma specialists into the following phenotypes according to their predominant characteristics: (1) concentric rim thinning, (2) focal rim thinning, (3) acquired pit of the optic nerve (APON), (4) tilted, (5) extensive peripapillary atrophy (PPA), and (6) broad rim thinning. Demographic, medical, and ocular data were collected. Kruskal–Wallis was used as a non-parametric test and pairwise comparison was performed by using Wilcoxon rank sum test corrected.

Results

Phenotypic distribution was as follows: 398(45%) focal thinning, 153(18%) concentric thinning, 153(17%) broad thinning, 109(12%) tilted, 47(5%) extensive PPA and 25(3%) APON. Phenotypic traits of interest included a higher proportion of female patients with the focal thinning phenotype (p = 0.015); myopia (p = 0.000), Asian race (OR: 8.8, p = 0.000), and younger age (p = 0.000) were associated with the tilted phenotype; the concentric thinning patients had thicker RNFL (p = 0.000), higher MD (p = 0.008) and lower PSD (p = 0.043) than broad thinning, despite no difference in disc sizes (p = 0.849). The focal thinning group had a localized VF pattern with high PSD compared to concentric thinning (p = 0.005).

Conclusion

We report six phenotypic classifications of POAG patients with demographic and ocular differences between phenotypes. Future refinement of phenotypes should allow enhanced identification of genetic associations and improved individualization of patient care.

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Data availability

All data are available from the corresponding author upon a reasonable request.

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Acknowledgements

The authors thank Fei Yu Ph.D., for his expertize and assistance with statistical analyses.

Funding

Research to Prevent Blindness, New York, NY; The Payden Glaucoma Research Fund; The Simms/Mann Family Foundation. The funding organizations had no role in the design or conduct of this research.

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Authors and Affiliations

  1. Glaucoma Division, Jules Stein Eye Institute, University of California Los Angeles (UCLA), Los Angeles, CA, USA

    Lourdes Grassi, Ella Bouris, Esteban Morales & Joseph Caprioli

  2. Department of Ophthalmology, Vision Consultants and Surgeons, Falls Church, VA, USA

    Diana Salazar Vega

  3. Hospital Italiano de Buenos Aires, Buenos Aires, Argentina

    Agustina De Gainza

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  1. Lourdes Grassi
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  2. Diana Salazar Vega
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  6. Joseph Caprioli
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Contributions

All authors contributed to this study. Conception and design: JC, LG, ADG, DSV; Data collection: LG, EB; Formal analysis and interpretation of data: JC, LG, EM; Methodology: JC, LG, ADG, DSV; Project administration: JC, LG, EB; Supervision: JC, EB; Validation: JC; Writing paper: JC, LG, ADG, EB; Writing—review & editing: JC, LG, ADG, EB, SD, EM.

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Correspondence to Joseph Caprioli.

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Grassi, L., Salazar Vega, D., De Gainza, A. et al. Phenotypic expressions of the optic disc in primary open-angle glaucoma. Eye 37, 3839–3846 (2023). https://doi.org/10.1038/s41433-023-02627-4

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