A pedigree of dominant drusen with high hypermetropia

Abstract

Objectives To observe the clinical features of a pedigree of dominant drusen with high supermetropia.Methods Three patients in a family with dominant drusen were retrospectively reviewed.The refractive conditions were confirmed by computer and manual refraction examination with pupils dilated by tropicamide.Color fundus photography and fluorecein angiography were carried out with a FF450 Plus Zeiss camera.The fundus fluorescein angiography (FFA) photos were analyzed.Standard electroretinogram responses (ERGs) were also recorded.The characteristics of refractive condition,color fundus photos,FFA and ERG of the patients were analyzed.Results Various degrees of drusen were observed in the retinae of the three patients.The disease in the younger brother of the proband was mild and in the mother is severe.A large number of drusen existed in the peripheral retina as well as macula in the mother of the proband.FFA revealed window defects corresponding to the drusen. The dilated refractive results showed high supermetropic refractive error in the three patients.All of the eyes except the left eye of the mother of the proband showed refractive amblyopia.The amplitude of the photopic ERGs were decreased but the scotopic ERGs were normal in the younger brother of the proband.The scotopic and photopic ERGs of the proband and her mother were normal. Conclusion Patients with dominant drusen in combinnation with high hypermetropic refractive error and amblyopia may occur. Key words: Retinal drusen/congenital; Hyperopia; Genes,dominant; Pedigree