Genetic basis of primary open-angle glaucoma

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History of genetic associations of glaucoma

The hereditary nature of glaucoma became of interest to scientists as early as 1842 when a study by Benedict questioned the existence of the familial risk of the glaucomas based on POAG occurrence in two sisters.1 In 1869, von Gräfe reiterated the importance of inheritance in the aetiology of glaucoma and referred to families in which the disease presented in three to four generations. At this time, the method of analysing the heredity of glaucoma was primarily done by family pedigree trees (Figure 1). The first description of juvenile onset primary open-angle glaucoma (J-POAG) was done in 1932 by Bell and associates who found a large number of patients presenting with inherited glaucoma before the age of 30.2 Up to this point, the subjects of journal articles were families where glaucoma presented in multiple members.