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A Comparison of Genomic Advances in Exfoliation Syndrome and Primary Open-Angle Glaucoma

  • Diagnosis and Monitoring of Glaucoma (J Kammer, Section Editor)
  • Published:
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Abstract

Purpose of Review

This review compares recent progress of the genetics of primary open-angle glaucoma (POAG) and exfoliation syndrome/glaucoma (XFS/XFG).

Recent Findings

Many common variants and associated endophenotypes have been discovered in POAG through genomic wide association studies (GWAS), particularly in ethnically diverse cohorts. Though the functional significance of these common variants is unknown, these advances have increased heritability estimates and helped create polygenic risk scores. In contrast, few variants have been identified in XFS/XFG, hindering efforts to examine endophenotypes, create satisfactory animal models, and establish a firm genetic basis.

Summary

Rapid genetic advancements have demonstrated that genes of small effect may contribute a larger role in POAG than previously thought. Given the pace of gene discovery, it is likely that novel therapies and genetic screening tools are future possibilities. Limited progress in XFS/XFG suggests an underlying non-hereditary disease component. A multiomic approach for XFS/XFG may provide further insights.

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Funding

This work is supported by an unrestricted grant from Research to Prevent Blindness, NYC. Dr. Pasquale is supported by NEI R01EY015473.

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Authors and Affiliations

  1. Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Jessica H. Tran & Louis R. Pasquale

  2. Department of Ophthalmology, New York Eye and Ear Infirmary of Mount Sinai, 310 E 14th St, New York, NY, 10003, USA

    Louis R. Pasquale

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  1. Jessica H. Tran
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  2. Louis R. Pasquale
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Correspondence to Louis R. Pasquale.

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This article is part of the Topical Collection on Diagnosis and Monitoring of Glaucoma

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Tran, J.H., Pasquale, L.R. A Comparison of Genomic Advances in Exfoliation Syndrome and Primary Open-Angle Glaucoma. Curr Ophthalmol Rep 9, 96–106 (2021). https://doi.org/10.1007/s40135-021-00270-4

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