Clinical observation and gene mutation detection in a pedigree of retinal lattice degeneration combined with granular corneal dystrophy
10.3760/cma.j.issn.1005-1015.2018.01.012
- VernacularTitle:视网膜格子样变性并颗粒状角膜营养不良一家系临床观察和基因突变检测
- Author:
Chunli CHEN
1
,
2
,
3
;
Xiang ZHANG
;
Jiao LYU
;
Tian TIAN
;
Jie PENG
;
Haiying JIN
;
Qi ZHANG
;
Peiquan ZHAO
Author Information
1. 200092 上海交通大学医学院附属新华医院眼科
2. 胜利油田中心医院眼科
3. 天津医科大学眼科医院
- Keywords:
Corneal dystrophies;
hereditary;
Retinal degeneration;
Mutation;
Gene;
TGFBI
- From:
Chinese Journal of Ocular Fundus Diseases
2018;34(1):47-50
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical manifestations and gene mutation of a pedigree with retinal lattice degeneration and granular corneal dystrophy (GCD) type 2.Methods Ten members in 3 generations of a pedigree with retinal lattice degeneration and GCD2 were included in the study, including 6 patients (3 males and 3 females) and 4 healthy family members. All members underwent visual acuity, slit lamp microscope, three-mirror lens, fundus color photography, optical coherence tomography, and corneal endothelial cells counting. Genomic DNA was extracted from peripheral venous blood (2 ml) from all the subjects and their spouses, who had no related inherited diseases. The next generation sequencing method was used to detect the mutation sites of transforming growth factor β (TGFBI), and all results underwent Sanger verification.Results Among the 12 eyes of 6 patients, the visual acuity was FC/20 cm-1.0. In the superficial central corneal stroma, snowflake-like deposits were observed in three cases (6 eyes), and a small amount of granular deposits were observed in three cases (6 eyes). Corneal endothelial cell counts were normal. Retinal lattice degeneration were observed in 3 cases, 6 eyes (including 3 cases of rhegmatogenous retinal detachment in 4 eyes); retinal thinning without obvious lattice degeneration in 4 eyes of 2 patients. Nystagmus in 1 patient and fundus examination showed no significant abnormalities. DNA sequencing results showed that the proband and 4 patients had missense mutation of TGFBI gene in exon 4 c.371G> A, the mutation site corresponding to the amino acid change encoded by TGFBI gene No. 124 Amino acids, from arginine to histidine (p.R124H). Patients with this mutation have varying degrees of clinical phenotype.Conclusions The mutation of c.701G> A (p.R124H) in TGFBI gene is the causative gene of GCD in this pedigree. The patients with this mutation have different clinical phenotypes.
