Macular Degeneration, Age-Related, 5

A number sign (#) is used with this entry because of evidence that susceptibility to age-related macular degeneration-5 (ARMD5) is conferred by heterozygous mutation in the ERCC6 gene (609413) on chromosome 10q11.

For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075.

Molecular Genetics

In a cohort of 460 advanced cases of age-related macular degeneration and 269 age-matched controls and 57 archived ARMD cases and 18 age-matched non-ARMD controls, Tuo et al. (2006) found that a -6530C-G SNP (609413.0010; rs3793784) in the ERCC6 gene was associated with ARMD susceptibility, both independently and through interaction with an intronic SNP in the CFH gene (see 134370.0008; rs380390) previously reported to be highly associated with ARMD.