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 multimodal 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.
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 multimodal 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.
Authors: Jan H Terheyden; Robert P Finger; Steffen Schmitz-Valckenberg; Hansjürgen Agostini; Claudia Dahlke; Laura Kuehlewein; Gabriele E Lang; Daniel Pauleikhoff; Armin Wolf; Michael K Boettger; Ulrich F O Luhmann; Friedrich Asmus; Frank G Holz Journal: Ophthalmologe Date: 2019-12 Impact factor: 1.059
Authors: Moussa A Zouache; Alex Bennion; Jill L Hageman; Christian Pappas; Burt T Richards; Gregory S Hageman Journal: Sci Rep Date: 2020-12-03 Impact factor: 4.379
Authors: Johanna M Seddon; James P Dossett; Rafael Widjajahakim; Bernard Rosner Journal: Invest Ophthalmol Vis Sci Date: 2019-10-01 Impact factor: 4.799