PURPOSE: To examine the prevalence and heredity of small hard drusen in 220 healthy twins aged 20-46 years. METHODS: Grayscale digital fundus photography, four-field 50 degrees nonstereoscopic, in red-free illumination was performed in 58 pairs of monozygotic (MZ) twins and 52 pairs of dizygotic (DZ) twins as part of a detailed biometric characterization. Small hard drusen (diameters, <63 microm) were counted and graded by distribution type. RESULTS: Small hard drusen were present in 212 of the 220 subjects. Five or more drusen per eye were found in 89 subjects, in three patterns of distribution: scattered drusen (66 subjects), macular drusen (18 subjects), and stippled, innumerable drusen (5 subjects). When analyzed as a continuous trait, the heritability of small hard drusen was 63% (95% confidence interval [CI], 43% to 77%). More than 20 drusen per eye were found in 26 subjects, and the heritability of this phenotype was 99% (95% CI, 82% to 100%). CONCLUSIONS: Hard drusen are prevalent in young adults, and having more than 20 drusen per eye is a highly hereditary feature. Additional research is needed to determine whether the presence of small hard drusen correlates with the development of age-related macular degeneration later in life and to explore the relation to AMD genotypes.
PURPOSE: To examine the prevalence and heredity of small hard drusen in 220 healthy twins aged 20-46 years. METHODS: Grayscale digital fundus photography, four-field 50 degrees nonstereoscopic, in red-free illumination was performed in 58 pairs of monozygotic (MZ) twins and 52 pairs of dizygotic (DZ) twins as part of a detailed biometric characterization. Small hard drusen (diameters, <63 microm) were counted and graded by distribution type. RESULTS: Small hard drusen were present in 212 of the 220 subjects. Five or more drusen per eye were found in 89 subjects, in three patterns of distribution: scattered drusen (66 subjects), macular drusen (18 subjects), and stippled, innumerable drusen (5 subjects). When analyzed as a continuous trait, the heritability of small hard drusen was 63% (95% confidence interval [CI], 43% to 77%). More than 20 drusen per eye were found in 26 subjects, and the heritability of this phenotype was 99% (95% CI, 82% to 100%). CONCLUSIONS: Hard drusen are prevalent in young adults, and having more than 20 drusen per eye is a highly hereditary feature. Additional research is needed to determine whether the presence of small hard drusen correlates with the development of age-related macular degeneration later in life and to explore the relation to AMD genotypes.
Authors: G Silvestri; M A Williams; C McAuley; K Oakes; E Sillery; D C Henderson; S Ferguson; V Silvestri; K A Muldrew Journal: Eye (Lond) Date: 2012-08-17 Impact factor: 3.775
Authors: Yanling Ouyang; Florian M Heussen; Pearse A Keane; Srinivas R Sadda; Alexander C Walsh Journal: Invest Ophthalmol Vis Sci Date: 2013-02-19 Impact factor: 4.799
Authors: Ronald Klein; Karen J Cruickshanks; Scott D Nash; Elizabeth M Krantz; F Javier Nieto; Guan H Huang; James S Pankow; Barbara E K Klein Journal: Arch Ophthalmol Date: 2010-06
Authors: Aaron M Newman; Natasha B Gallo; Lisa S Hancox; Norma J Miller; Carolyn M Radeke; Michelle A Maloney; James B Cooper; Gregory S Hageman; Don H Anderson; Lincoln V Johnson; Monte J Radeke Journal: Genome Med Date: 2012-02-24 Impact factor: 11.117
Authors: Elisa Buschini; Antonio M Fea; Carlo A Lavia; Marco Nassisi; Giulia Pignata; Marta Zola; Federico M Grignolo Journal: Clin Ophthalmol Date: 2015-04-01