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Eugen Gramer, Anna Schwarz, Nicole Weisschuh, Florentina Freiberg, Gwendolyn Gramer; High Frequency of Glaucoma in Family History in Patients with Drusen of the Optic Disc- Prospective Evaluation of 87 Patients with Optic Disc Drusen. Invest. Ophthalmol. Vis. Sci. 2011;52(14):3874.
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Prospective evaluation of family history (FH) of glaucoma (Gl) in patients with sonographically confirmed optic disc drusen (ODD). Is there a significant difference of Gl in FH between patients with ODD and healthy individuals? Prospective evaluation of the incidence of FH of ODD. Is there a hint that ODD are inherited?
By means of a detailed questionnaire for the evaluation of FH of Gl, 87 patients with ODD provided information by interviewing all of their first and second degree relatives whether an ophthalmologist had diagnosed or excluded Gl or ocular hypertension, or whether no information was available. This questionnaire had been found to be feasible in more than 2000 Gl patients. Answering a second questionnaire, 62 out of these 87 patients were able to provide complete information about ODD in their FH. The control group of healthy individuals for FH of Gl consisted of 176 consecutively examined patients, seen due to not optic disc related problems as e.g. dry eye, who were interviewed in a standardized way. Within the control group, Gl and ODD had been excluded by complete clinical examination .Statistics: Fisher’s exact test.
In the group of patients with ODD, a FH of Gl was found in 20.7% (18 of 87 patients). In the control group, 2.8% (5 of 176 patients) reported Gl in FH.Gl in FH was significantly more frequent in patients with ODD (p= 4.3 x 10-6) compared to controls. ODD in FH were found in 6 out of 62 patients (10%) with ODD.
An evaluation of FH of ODD and Gl is essential in patients with ODD. Since in ODD patients no cup to disc ratio measurement for Gl diagnosis is feasible, the development of e.g. normal tension Gl is not detectable. Therefore, the cause of visual field progression cannot be differentiated. Gl in FH of ODD patients requires thorough controls of intraocular pressure (IOP) and IOP lowering therapy in case of visual field loss. The incidence of ODD in FH was found to be higher than reported in literature. A molecular genetic evaluation is planned for further elucidation.
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