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
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Univ Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Chavali, Venkata Ramana Murthy
Diniz, Bruno
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Doheny Eye Inst, Los Angeles, CA 90033 USA
Univ Fed Sao Paulo, Dept Ophthalmol, BR-09920 Sao Paulo, BrazilUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Diniz, Bruno
Huang, Jiayan
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Univ Penn, Dept Ophthalmol, Ctr Prevent Ophthalmol & Biostat, Philadelphia, PA 19104 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Huang, Jiayan
Ying, Gui-Shuang
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Univ Penn, Dept Ophthalmol, Ctr Prevent Ophthalmol & Biostat, Philadelphia, PA 19104 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Ying, Gui-Shuang
Sadda, SriniVas R.
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Doheny Eye Inst, Los Angeles, CA 90033 USA
Univ So Calif, Keck Sch Med, Dept Ophthalmol, Los Angeles, CA 90033 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Sadda, SriniVas R.
Stambolian, Dwight
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Univ Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
机构:
Univ Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Chavali, Venkata Ramana Murthy
Diniz, Bruno
论文数: 0引用数: 0
h-index: 0
机构:
Doheny Eye Inst, Los Angeles, CA 90033 USA
Univ Fed Sao Paulo, Dept Ophthalmol, BR-09920 Sao Paulo, BrazilUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Diniz, Bruno
Huang, Jiayan
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h-index: 0
机构:
Univ Penn, Dept Ophthalmol, Ctr Prevent Ophthalmol & Biostat, Philadelphia, PA 19104 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Huang, Jiayan
Ying, Gui-Shuang
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h-index: 0
机构:
Univ Penn, Dept Ophthalmol, Ctr Prevent Ophthalmol & Biostat, Philadelphia, PA 19104 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Ying, Gui-Shuang
Sadda, SriniVas R.
论文数: 0引用数: 0
h-index: 0
机构:
Doheny Eye Inst, Los Angeles, CA 90033 USA
Univ So Calif, Keck Sch Med, Dept Ophthalmol, Los Angeles, CA 90033 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA
Sadda, SriniVas R.
Stambolian, Dwight
论文数: 0引用数: 0
h-index: 0
机构:
Univ Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USAUniv Penn, Dept Ophthalmol, Stellar Chance Labs 313B, 422 Curie Blvd, Philadelphia, PA 19104 USA