Abstract | OBJECTIVE: DESIGN: Clinic-based case series study. PARTICIPANTS: The data set contained a total of 956 unrelated cases of AMD. METHODS: MAIN OUTCOME MEASURES: Presence or absence of 34 phenotypic features. RESULTS: Of the 34 features analyzed, only peripheral reticular pigmentary change (PRPC) was associated with this CFH variant (P = 0.0006). The proportion of AMD cases with PRPC correlated with the number of CFH risk C alleles in a dose-response fashion. CONCLUSIONS: The CFH Y402H polymorphism is associated with PRPC, suggesting that AMD changes are not limited to the macula. Current AMD grading methods assess only the macula and should consider incorporating peripheral retinal changes. Phenotypes that suggest a high-risk genotype may prove valuable for diagnostic, therapeutic, and research purposes.
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Authors | R Keith Shuler Jr, Silke Schmidt, Paul Gallins, Michael A Hauser, William K Scott, Jennifer Caldwell, Anita Agarwal, Jonathan L Haines, Margaret A Pericak-Vance, Eric A Postel |
Journal | Ophthalmology
(Ophthalmology)
Vol. 115
Issue 3
Pg. 520-4
(Mar 2008)
ISSN: 1549-4713 [Electronic] United States |
PMID | 18067970
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- CFH protein, human
- Complement Factor H
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Topics |
- Aged
- Complement Factor H
(genetics)
- Female
- Genotype
- Humans
- Macular Degeneration
(genetics, pathology)
- Male
- Phenotype
- Pigment Epithelium of Eye
(pathology)
- Polymorphism, Single Nucleotide
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