Fig 1.
Pedigrees of six cuticular drusen (CD) families in which whole exome sequencing (WES) was performed.
Circle and square symbols indicate female and male individuals, respectively. Symbols with slashes indicate deceased individuals. Black and empty symbols indicate affected and unaffected individuals, respectively. Asterisks indicate the family members for whom exome sequencing was performed. The numbers below the symbols indicate the age at participation of family members.
Fig 2.
Retinal images of 12 sporadic cuticular drusen (CD) cases for whom exome sequencing (WES) was performed.
Panels A and B represent colour fundus photographs (1A-12A) and fluorescein angiograms (FAs) (1B-12B) of 12 cases respectively. For cases 1–5 retinal images of the right eye are shown, whereas for cases 6–12 retinal images of the left eye are shown. The CD phenotype presents with a large number of small and uniformly sized hyperfluorescent drusen on FA.
Table 1.
Rare missense variants identified in known macular degeneration genes in 12 sporadic CD subtype of AMD cases by WES.
Table 2.
Recurrent missense variants identified in two of 289 candidate genes in 12 sporadic CD subtype of AMD cases by WES.
Table 3.
Overlapping rare sequence variants identified in seven of 289 candidate genes in affected members of CD families by WES.
Fig 3.
Segregation analysis of rare sequence variants identified in candidate genes in cuticular drusen (CD) families by whole exome sequencing (WES).
Circles, females; squares, males; empty symbols, unaffected; black symbols, affected; asterisks, exome sequenced individuals; ‘+’ symbol, wild type allele; ‘m’ symbol, mutant type allele. The age at participation is specified below the symbols.