Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families

Eric A. Postel, Anita Agarwal, Silke Schmidt, Yu Ti R Fan, William K Scott, John Gilbert, Jonathan L. Haines, Margaret A Pericak-Vance

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

• PURPOSE: To compare age-related macular degeneration (AMD) phenotype between probands in singleton and multiplex families to determine whether data from these two groups may be combined for consolidated genetic analyses. • DESIGN: Retrospective case-control study. • METHODS: Individuals 55 years of age or older with AMD were identified. Complete histories and examinations were recorded, 35-mm fundus photographs obtained, and macular findings graded. Detailed information was recorded, including the presence of extramacular and peripheral drusen, peripheral reticular pigmentary change, posterior vitreous detachment, and iris color. Comparisons were performed between probands from singleton and multiplex families. • RESULTS: There was no statistically significant difference in grade between the 411 singleton and 125 multiplex probands (P = .52), and the distribution of grades was similar between the two groups. No statistically significant difference was found between proband groups with respect to the presence or extent of small (P = .48), intermediate (P = .72), and large drusen (P = .74) and retinal pigment epithelium hyper- (P = .76) and hypopigmentation (P = .55); in the presence or grade of peripheral reticular pigment change; the presence of geographic atrophy in exudative disease, extramacular drusen, or posterior vitreous detachment; lens status; iris color; visual acuity; intraocular pressure; optic nerve cupping; and body mass index. A statistically significant difference between the two groups was noted in the presence of peripheral drusen (P = .0001). • CONCLUSIONS: Singleton and multiplex AMD probands share a similar phenotype. This suggests that multiplex and singleton data can be combined for consolidated genetic analyses.

Original languageEnglish
Pages (from-to)820-825
Number of pages6
JournalAmerican Journal of Ophthalmology
Volume139
Issue number5
DOIs
StatePublished - Apr 1 2005
Externally publishedYes

Fingerprint

Macular Degeneration
Vitreous Detachment
Iris
Phenotype
Color
Geographic Atrophy
Hypopigmentation
Retinal Pigment Epithelium
Optic Nerve
Intraocular Pressure
Lenses
Visual Acuity
Case-Control Studies
Body Mass Index

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. / Postel, Eric A.; Agarwal, Anita; Schmidt, Silke; Fan, Yu Ti R; Scott, William K; Gilbert, John; Haines, Jonathan L.; Pericak-Vance, Margaret A.

In: American Journal of Ophthalmology, Vol. 139, No. 5, 01.04.2005, p. 820-825.

Research output: Contribution to journalArticle

Postel, Eric A. ; Agarwal, Anita ; Schmidt, Silke ; Fan, Yu Ti R ; Scott, William K ; Gilbert, John ; Haines, Jonathan L. ; Pericak-Vance, Margaret A. / Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. In: American Journal of Ophthalmology. 2005 ; Vol. 139, No. 5. pp. 820-825.
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