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S.C. Lalin, S. Chang, L.V. Del Priore; Possible Familial Link for Idiopathic Macular Hole . Invest. Ophthalmol. Vis. Sci. 2003;44(13):3107.
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Purpose: Despite extensive work over the last 3 decades the etiology of idiopathic macular holes is largely unknown. Previous authors have demonstrated that systemic risk factors may exist for the development of macular hole including female gender, age in the 7th or 8th decade, estrogen use, and the presence of cardiovascular disease. Herein we report the first series of patients in whom macular hole formation was identified amongst siblings within two different families. Methods: Patients who had siblings with macular holes were identified from a multiple-physician tertiary care referral retina practice. Results: Two families were identified who had macular holes amongst siblings. In the first family, two sisters in their seventh decade developed stage 2B macular holes. One sister underwent macular hole surgery 6 weeks after becoming symptomatic with visual improvement from 20/70 to 20/30, whereas the second sibling deferred surgery with a visual acuity of 20/60. In a second family, 3 of 4 siblings were affected with this disease. One brother and one sister developed advanced macular holes. The sister had surgical repair of a stage 3 hole with visual improvement from 20/200 to 20/80. The affected brother was diagnosed with a stage 4 macular hole 18 months after the onset of symptoms and elected not to undergo surgical intervention (acuity = 20/200). A third female sibling had a stage 1 hole with 20/25 vision. Conclusions: To our knowledge this is the first report of a familial association for idiopathic macular hole with the occurrence of macular holes within siblings. Given the low incidence of this disease within the general population, it is unlikely that this association is present by chance alone. We hypothesize that the increased incidence of macular holes in these two sets of siblings suggests that there is a possible genetic component to the formation of macular holes in these individuals. Further analysis may allow us to determine the genetic factors that may contribute to the development of this condition. Supported by unrestricted funds from Research to Prevent Blindness.
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