Universität zu Köln

Saksens, Nicole T. M., Kersten, Eveline, Groenewoud, Joannes M. M., van Grinsven, Mark J. J. P., van de Ven, Johannes P. H., Sanchez, Clara I., Schick, Tina, Fauser, Sascha, den Hollander, Anneke I., Hoyng, Carel B. and Boon, Camiel J. F. (2014). Clinical Characteristics of Familial and Sporadic Age-Related Macular Degeneration: Differences and Similarities. Invest. Ophthalmol. Vis. Sci., 55 (11). S. 7085 - 7093. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

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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 x 10(-5)). Risk factors identified in sporadic and familial subjects were increasing age (odds ratio [OR], 1.08 per year; P = 3.0 x 10(-51), and OR, 1.15; P = 5.3 x 10(-36), respectively) and smoking (OR, 1.01 per pack year; P = 1.1 x 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 x 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Saksens, Nicole T. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kersten, Eveline UNSPECIFIED UNSPECIFIED UNSPECIFIED Groenewoud, Joannes M. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED van Grinsven, Mark J. J. P. UNSPECIFIED UNSPECIFIED UNSPECIFIED van de Ven, Johannes P. H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sanchez, Clara I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schick, Tina UNSPECIFIED UNSPECIFIED UNSPECIFIED Fauser, Sascha UNSPECIFIED UNSPECIFIED UNSPECIFIED den Hollander, Anneke I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyng, Carel B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Boon, Camiel J. F. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-423898
DOI:	10.1167/iovs.14-14659
Journal or Publication Title:	Invest. Ophthalmol. Vis. Sci.
Volume:	55
Number:	11
Page Range:	S. 7085 - 7093
Date:	2014
Publisher:	ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Place of Publication:	ROCKVILLE
ISSN:	1552-5783
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FACTOR-H POLYMORPHISM; CARDIOVASCULAR RISK-FACTORS; CUTICULAR DRUSEN; TERM INCIDENCE; ASSOCIATION; MACULOPATHY; VARIANT; CAROTENOIDS; DISEASE; CONFERS Multiple languages Ophthalmology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/42389