Genetic Polymorphisms and the Phenotypic Characterization of Individuals with Early Age-Related Macular Degeneration

被引:7
作者
Oeverhaus, Michael [1 ,3 ]
zu Westrup, Verena Meyer [2 ]
Dietzel, Martha [1 ,4 ]
Hense, Hans-Werner [2 ]
Pauleikhoff, Daniel [1 ]
机构
[1] St Franziskus Hosp, Dept Ophthalmol, Munster, Germany
[2] Univ Munster, Fac Med, Inst Epidemiol & Social Med, Munster, Germany
[3] Univ Hosp Essen, Dept Ophthalmol, Hufelandstr 55, DE-45147 Essen, Germany
[4] Maximilians Eye Clin, Nurnberg, Germany
关键词
Single nucleotide polymorphisms; SD-OCT; Early age-related macular degeneration; Drusen; Microperimetry; Phenotyping; Genetic polymorphisms; Risk factors; Phenotypic differences; OPTICAL COHERENCE TOMOGRAPHY; RISK-FACTORS; FUNDUS AUTOFLUORESCENCE; MACULOPATHY; PROGRESSION; DRUSEN; RETINA; EYE; ASSOCIATION; MICROPERIMETRY;
D O I
10.1159/000468949
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Purpose: While the importance of risk polymorphisms for the pathogenesis of age-related macular degeneration (AMD) is well established, their impact on morphological and functional phenotypes is largely unclear. We aimed to characterize individual phenotypes in patients who were either homozygous for a risk allele in the CFH gene, ARMS2 gene, or both as compared to non-carriers. Methods: Patients with early AMD (n = 85) were assessed during a follow-up examination of a prospective study (MARS) with multi-modal diagnostics including SD-OCT and microperimetry. Results: Compared to non-carriers, OCT scans revealed lower retinal thickness in patients homozygous for CFH or ARMS2, which was caused by a significantly reduced photoreceptor layer. The number and ultrastructure of drusen were also significantly different. Conclusions: These findings indicate that patients with risk alleles demonstrate distinct phenotypic differences of morphology and function as compared to non-carriers. In particular in the CFH group, a loss of photoreceptors occurred concomitantly with reduced retinal sensitivity. Further studies might help to better understand the pathophysiology. (C) 2017 S. Karger AG, Basel
引用
收藏
页码:6 / 16
页数:11
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