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  • Genetics of Pigmentary Glaucoma

    By Jean Shaw
    Selected and Reviewed By: Neil M. Bressler, MD, and Deputy Editors
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    Journal Highlights

    JAMA Ophthalmology, March 2020

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    Despite evidence of familial aggrega­tion, the sporadic nature of pigmen­tary glaucoma (PG) and its status as a relatively rare condition have stymied research on heritability. Simcoe et al. set out to elucidate the genetics of PG by calculating its single-nucleotide polymorphism (SNP) heritability and identifying other genetic associations. They found a possible genetic compo­nent and shared genetic risks with iris pigmentation and myopia.

    For this genome-wide association study, the researchers included 227 affected individuals from Germany and 291 control participants from the United Kingdom. All were of European ancestry. Those with PG were younger (mean age, 58.7 years) than the control participants (mean age, 80.2 years). Main outcome measures were an esti­mate of SNP-explained heritability for PG, correlations of effect sizes between PG and iris pigmentation and myopia, and correlations of effect sizes between PG and other eye phenotypes.

    Results of the analysis showed a heritability estimate of 45% (standard error, 0.22; p = 6.15 × 10-10). Some SNPs that have previously been linked to eye pigmentation and myopia cor­related with those for PG. However, PG appeared to be genetically distinct from primary open-angle glaucoma and its endophenotypes.

    The results point to some possible mechanisms that may contribute to PG, and the authors called for further research.

    The original article can be found here.