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Phenotype characteristics of patients with age-related macular degeneration carrying a rare variant in the complement factor H gene [published online August 31, 2017] -
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- Publisher
- American Medical Association
- Copyright
- Copyright 2017 American Medical Association. All Rights Reserved.
- ISSN
- 2168-6165
- eISSN
- 2168-6173
- DOI
- 10.1001/jamaophthalmol.2017.3203
- Publisher site
- See Article on Publisher Site
Abstract
Phenotype Characteristics of a Rare Variant in the CFH Gene in AMD Original Investigation Research Invited Commentary Johanna M. Seddon, MD, ScM; Daniela Ferrara, MD, PhD Rare variants in the complement factor H (CFH) gene are as- yond the topography of the retinal vascular arcades, and they sociated with age-related macular degeneration (AMD). In fact, had higher drusen scores compared with those without the the highly penetrant rare variant CFH p.Arg1210Cys (R1210C) variant. Carriers also had a much greater likelihood of having 1 7 is the strongest genetic risk factor for AMD identified to date. advanced AMD and a higher prevalence of geographic atrophy. Carriers of this mutation have In another study that identified 4 rare loss-of-function CFH about a 20-fold higher risk of variants with high penetrance in AMD families, most carriers Related article page 1037 developing the disease com- had an earlier age at disease onset, bilateral advanced dis- 1 4 pared with noncarriers. A ease, and extramacular drusen. large targeted sequencing study of samples from 1665 AMD The article in the current issue of JAMA Ophthalmology cases and 752 control individuals found an increased burden underscores and confirms these findings. The authors used of CFH rare
Journal
JAMA Ophthalmology – American Medical Association
Published: Oct 31, 2017