Goniodysgenesis in familial primary open-angle glaucoma

Results of a pilot study to evaluate goniodysgenesis as a cause of familial open-angle glaucoma are reported. Patients with a familial high tension open-angle glaucoma and a goniodysgenetic chamber angle (n = 11), a number of their relatives with glaucoma (n = 12), and their relatives without glaucoma (n = 26) were compared to a group of normals (n = 120). Eight characteristics of goniodysgenesis were scored and summed into a total goniodysgenesis-score for each chamber angle examined, a higher score corresponding to a more dysgenetic chamber angle. The distribution of the goniodysgenesis-score was compared between the four groups studied. A highly significant difference (p < 0.001) was found between the probands and the normal population, but there was no difference in distribution between the relatives with glaucoma and the relatives without glaucoma. It is concluded that goniodysgenesis cannot explain the occurrence of glaucoma in the families investigated in this study. A significant difference was also found between the normal population and all the relatives combined, with higher scores in the group of relatives. An explanation could be that goniodysgenesis is inherited within the families studied, possibly in an autosomal dominant way, but independent of the occurrence of glaucoma.