Objective To detect gene mutations of Fas gene death domain （exons 7-9） in 2 Chinese keloid pedigrees and to investigatethe significance of Fas gene mutations in the keloid formation.Methods The samples were selected from keloid pedigrees A and B in 2005. The polymerase chainreaction and DNA sequencing analysis technique were used to detect the sequenceof exons 7-9 of Fas gene from keloid tissues of 2 male patients in pedigree A,their peripheral vein blood and their surrounding normal skin served as their own contrast, their spouses’ peripheral vein blood served as normal contrast, the peripheral vein blood of 2 patients in pedigree B served as a contrast between different keloid pedigrees.Results No gene mutations and single nucleotidepolymorphism in Fas gene exons 7, 8 were found in all samples from pedigrees A and B. But point mutations and single nucleotide polymorphism in Fas gene exon 9were identified in 11 bp and 53 bpin 2 keloid tissue samples from Chinese keloid pedigree A.Conclusion Fas gene point mutations maybe indicate some relations in Fas protein function and keloid formation.
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.