摘要
Purpose:To investigate the clinical and hereditary features of a Chinese Han pedigree with familial vitreous amyloidosis.Methods:The hereditary features of familial traits were detected by drawing genealogy,and the clinical menifestations were observed.Results:This family with 4 generations of 32 family members had the characteristics of euchromosome dominant inheritance.The age of onset in heterozygotes was over 40 years old in male and over 55 in female.All affected individuals had curly hair.Among the 23 family members of the first 3 generations,7 had the final diagnosis.Four of the cases treated by vitrectomy was found to have open angle glaucoma during the follow-up.Conclusion:We reported a Chinese Han pedigree with familial vitreous amyloidosis which is a rare condition in Chinese and described the clinical and hereditary features.The genetic sequencing and animal model are undergoing.
Purpose：To investigate the clinical and hereditary features of a Chinese Han pedigree with familial vitreous amyloidosis.Methods：The hereditary features of familial traits were detected by drawing genealogy,and the clinical menifestations were observed.Results：This family with 4 generations of 32 family members had the characteristics of euchromosome dominant inheritance.The age of onset in heterozygotes was over 40 years old in male and over 55 in female.All affected individuals had curly hair.Among the 23 family members of the first 3 generations,7 had the final diagnosis.Four of the cases treated by vitrectomy was found to have open angle glaucoma during the follow-up.Conclusion：We reported a Chinese Han pedigree with familial vitreous amyloidosis which is a rare condition in Chinese and described the clinical and hereditary features.The genetic sequencing and animal model are undergoing.
