A pedigree of Sorsby fundus dystrophy with mutation in TIMP3 gene
10.3760/cma.j.issn.1005-1015.2018.06.005
- VernacularTitle:Sorsby眼底营养不良一家系
- Author:
Xiaofang YIN
1
;
Zuke YE
;
Xiurong TANG
;
Yingying LIANG
;
Yanhao LI
;
Shueke LUO
;
Yan LU
Author Information
1. 528000,广东省佛山市第二人民医院眼科研究所
- Keywords:
Retinal dystrophies;
TIMP3 gene;
Mutation;
Heterozygote
- From:
Chinese Journal of Ocular Fundus Diseases
2018;34(6):546-551
- CountryChina
- Language:Chinese
-
Abstract:
Objective To observe the clinical manifestation and gene mutation of a pedigree with Sorsby fundus dystrophy (SFD).Methods Ten members in 3 generations of a pedigree with SFD were included in this study.Four patients were observed in the pedigree,including 2 females and 2 males.All 10 members underwent comprehensive ophthalmic examinations,including best-corrected visual acuity,intraocular pressure,slit-lamp biomicroscopy,indirect ophthalmoscopy,fundus color photography and spectral domain optical coherence tomography.Genomic DNA was extracted from peripheral venous blood which was collected from all the members.Relevant exons of ocular diseases were detected by the next generation sequencing method from the proband.The other members underwent Sanger verification.Results Among the four patients,fading eyesight was appeared at their 44,46,47 and 40 year-old respectively.The two male patients had bilateral morbidity,and the two female patients had monocular symptoms.DNA sequencing results showed that the proband,other 3 patients and 2 members from the Ⅲ generation had heterozygous mutation of TIMP3 gene in exon 5.The amino acid encoded by TIMP3 gene No.204 codon changed from serine to cysteine (TIMP3:NM_000362:Exon5:c.A610T/p.S204C).Coclusions The invasion time of all the patients in this pedigree is after their 40 year-old.Heterozygous mutation at c.610A＞T (p.S204C) in TIMP3 gene is the causative gene of SFD in this pedigree.
