Nicole T M Saksens1, Eveline Kersten1, Joannes M M Groenewoud2, Mark J J P van Grinsven3, Johannes P H van de Ven1, Clara I Sánchez3, Tina Schick4, Sascha Fauser4, Anneke I den Hollander1, Carel B Hoyng1, Camiel J F Boon5. 1. Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands. 2. Department of Epidemiology, Biostatistics, and Health Technology Assessment, Radboud University Medical Center, Nijmegen, The Netherlands. 3. Diagnostic Image Analysis Group, Radboud University Medical Center, Nijmegen, The Netherlands. 4. Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany. 5. Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Abstract
PURPOSE: We describe the differences and similarities in clinical characteristics and phenotype of familial and sporadic patients with age-related macular degeneration (AMD). METHODS: We evaluated data of 1828 AMD patients and 1715 controls enrolled in the European Genetic Database. All subjects underwent ophthalmologic examination, including visual acuity testing and fundus photography. Images were graded and fundus photographs were used for automatic drusen quantification by a machine learning algorithm. Data on disease characteristics, family history, medical history, and lifestyle habits were obtained by a questionnaire. RESULTS: The age at first symptoms was significantly lower in AMD patients with a positive family history (68.5 years) than in those with no family history (71.6 years, P = 1.9 × 10(-5)). Risk factors identified in sporadic and familial subjects were increasing age (odds ratio [OR], 1.08 per year; P = 3.0 × 10(-51), and OR, 1.15; P = 5.3 × 10(-36), respectively) and smoking (OR, 1.01 per pack year; P = 1.1 × 10(-6) and OR, 1.02; P = 0.005). Physical activity and daily red meat consumption were significantly associated with AMD in sporadic subjects only (OR, 0.49; P = 3.7 × 10(-10) and OR, 1.81; P = 0.001). With regard to the phenotype, geographic atrophy and cuticular drusen were significantly more prevalent in familial AMD (17.5% and 21.7%, respectively) compared to sporadic AMD (9.8% and 12.1%). CONCLUSIONS: Familial AMD patients become symptomatic at a younger age. The higher prevalence of geographic atrophy and cuticular drusen in the familial AMD cases may be explained by the contribution of additional genetic factors segregating within families. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.
PURPOSE: We describe the differences and similarities in clinical characteristics and phenotype of familial and sporadic patients with age-related macular degeneration (AMD). METHODS: We evaluated data of 1828 AMDpatients and 1715 controls enrolled in the European Genetic Database. All subjects underwent ophthalmologic examination, including visual acuity testing and fundus photography. Images were graded and fundus photographs were used for automatic drusen quantification by a machine learning algorithm. Data on disease characteristics, family history, medical history, and lifestyle habits were obtained by a questionnaire. RESULTS: The age at first symptoms was significantly lower in AMDpatients with a positive family history (68.5 years) than in those with no family history (71.6 years, P = 1.9 × 10(-5)). Risk factors identified in sporadic and familial subjects were increasing age (odds ratio [OR], 1.08 per year; P = 3.0 × 10(-51), and OR, 1.15; P = 5.3 × 10(-36), respectively) and smoking (OR, 1.01 per pack year; P = 1.1 × 10(-6) and OR, 1.02; P = 0.005). Physical activity and daily red meat consumption were significantly associated with AMD in sporadic subjects only (OR, 0.49; P = 3.7 × 10(-10) and OR, 1.81; P = 0.001). With regard to the phenotype, geographic atrophy and cuticular drusen were significantly more prevalent in familial AMD (17.5% and 21.7%, respectively) compared to sporadic AMD (9.8% and 12.1%). CONCLUSIONS:Familial AMDpatients become symptomatic at a younger age. The higher prevalence of geographic atrophy and cuticular drusen in the familial AMD cases may be explained by the contribution of additional genetic factors segregating within families. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.
Entities:
Keywords:
AMD; clinical characteristics; family history
Authors: Nicole T M Saksens; Yara T E Lechanteur; Sanne K Verbakel; Joannes M M Groenewoud; Mohamed R Daha; Tina Schick; Sascha Fauser; Camiel J F Boon; Carel B Hoyng; Anneke I den Hollander Journal: PLoS One Date: 2016-06-03 Impact factor: 3.240
Authors: Maheswara R Duvvari; Johannes P H van de Ven; Maartje J Geerlings; Nicole T M Saksens; Bjorn Bakker; Arjen Henkes; Kornelia Neveling; Marisol del Rosario; Dineke Westra; Lambertus P W J van den Heuvel; Tina Schick; Sascha Fauser; Camiel J F Boon; Carel B Hoyng; Eiko K de Jong; Anneke I den Hollander Journal: PLoS One Date: 2016-03-23 Impact factor: 3.240