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E. Gramer, G. Gramer; Significance of Family History of Glaucoma for Glaucoma Screening . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2189.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Prospective evaluation of the frequency of Glaucoma or Ocular Hypertension in the relatives of patients with Primary Open Angle Glaucoma (POAG) and to evaluate the acceptance rate of genetic glaucoma tests. Methods: By means of a questionnaire addressed to patients and their ophthalmologists glaucoma patients interviewed by means of detailed standardized questions their siblings, children, parents and the relatives of mother and father (grandmother, grandfather, uncles and aunts) whether a glaucoma (GL) or ocular hypertension (OH) was found or was excluded by their ophthalmologists. Further questions were addressed to the ophthalmologists of the patient (type of glaucoma, stage of visual field loss [VFL] etc.) We received 2170 completely answered questionnaires. 1335 patients had POAG. 153 patients with Normal Tension Glaucoma (NTG) and 154 patients with OH made up the control groups for this evaluation. Results:POAG: 194 out of 656 interviewed siblings (29.57%) had GL or OH. 64 of 866 children (7.39%), 212 of 873 mothers (24.28%), 109 of 747 fathers (14.59%) had GL or OH. Relatives of the mother: grandmother 44 of 319 (13.79%), grandfather 21 of 289 (7.27%), aunts 51 of 311 (16.4%), uncles 27 of 287 (9.41%). Relatives of the father: grandmother 27 of 255 (10.59%), grandfather 19 of 237 (8.02%), aunts 33 of 245 (13.47%), uncles 13 of 227 (5.73%). OH: 19 out of 67 interviewed siblings (28.36%), 25 of 94 mothers (26.6%) e. g. had GL or OH. NTG: 14 out of 76 interviewed siblings (18.42%), 23 of 98 mothers (23.47%) had GL or OH. Frequency of siblings with GL or OH in patients with POAG in relation to the stage of VFL: In patients with preperimetric glaucoma 77 out of 310 siblings (24.84%) had GL or OH. In patients with POAG stage I and II of VFL 69 of 201 siblings (34.33%), in patients with stage III and IV 23 of 75 interviewed siblings (30.67%) and in patients with stage V 23 of 60 interviewed siblings (38.33%) had GL or OH. Out of 2170 glaucoma patients 68,46% would like to have a genetic glaucoma test and 31,54% declined. Conclusions: With increasing stage of the disease, patients had a significant higher age. This leads to a higher frequency of GL or OH in the siblings of the POAG patients with advanced stages of VFL. The relative frequency of relatives with GL or OH was similar between the glaucomas. Females show a higher frequency of GL or OH than males. Siblings and mothers showed the highest detection probability for GL or OH. Glaucoma screening in relatives of glaucoma patients is therefore very effective in siblings and significant in all types of glaucoma for early detection of the glaucomas. Genetic tests are accepted in 68,46%.
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