Arg555Gln Mutation of <i>TGFBI</i> Gene in Geographical-Type Reis—Bücklers Corneal Dystrophy in a Chinese Family

Mz, Piao; Xt, Zhou; Wu, Lai-Chu; Ry, Chu

doi:10.1177/147323001204000335

Cited by 9 publications

(2 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The R124L mutation is also a common mutation type. In other atypical cases, R125H, R555Q, R555W and a few mutations at the R124C, G623D, H572R and H626P sites have also been reported [19][20][21][22][23][24][25][26][27] . Our study also found that the CD of this pedigree had high incidence, early onset age, severe condition and high recurrence rate.…”

Section: Discussionmentioning

confidence: 99%

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Fu¹,

Duan²,

Zhang³

et al. 2022

Int J Ophthalmol

View full text Add to dashboard Cite

AIM: To investigate the histological characteristics and ultrastructure of recurrent Chinese R124L mutated corneal dystrophy after keratoplasty. METHODS: The subjects were enrolled from a Chinese family of corneal dystrophy with R124L heterozygous gene mutation and with a history of consanguineous marriage. Normal corneal samples were used as controls. RESULTS: In this family, 2 patients (3 eyes) underwent penetrating keratoplasty (PKP) and 2 patients (4 eyes) underwent lamellar keratoplasty (LKP). They had recurrence at 33.5±3.0 (range 30-36)mo after keratoplasty. Among them, 1 patient (1 eye) underwent PKP again and 1 patient (2 eyes) underwent LKP again. In the R124L mutated recurrent corneal dystrophy, the corneal turbidity was mainly distributed from the upper corneal cortex to the anterior stroma; the corneal epithelium surface was rougher and more uneven; and, the corneal erosions were larger. Hematoxylin-eosin staining showed that the thickness of the corneal epithelium was uneven; the arrangement of the epithelial cells was disordered; and, some corneal epithelial cells were swollen. The results of Congo red staining, Masson’s trichrome staining and Periodic acid-Schiff staining were positive, while that of Alcian blue staining was negative. Under a transmission electron microscope, deposition of high electron density substances between epithelial and basal cells, and, apoptosis of basal cells were observed. Many high electron density depositions were observed in the sub-epithelial and anterior corneal matrix. CONCLUSION: In the Chinese family of recurrent corneal dystrophy with R124L gene mutation, the corneal epithelia of the recurrent cases are rougher, and the corneal depositions are extracellular amyloid fibrin.

show abstract

Section: Discussionmentioning

confidence: 99%

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Fu¹,

Duan²,

Zhang³

et al. 2022

Int J Ophthalmol

View full text Add to dashboard Cite

show abstract

“…Therefore, we kept Bowman's membrane and found that corneal epithelialization occurred in 1 week, which was as quick as human cornea transplantation. A regular arrangement of collagen fibrils was observed in normal clear corneal stroma, while collagen fibrils were not regularly arranged and disorganized in opaque corneal stroma (Piao, Zhou, Wu, & Chu, ; Wei et al, ). The regularity of collagen fibrils was assessed by distances between collagen fibers and the diameter of fibers using TEM.…”

Section: Discussionmentioning

confidence: 99%

Application of benzonase in preparation of decellularized lamellar porcine corneal stroma for lamellar keratoplasty

Liu

2019

J Biomedical Materials Res

View full text Add to dashboard Cite

This study was to develop anovel and efficient method using endonuclease (benzonase) to preparedecellularized lamellar porcine corneal stroma (DLPCS). The DLPCS was preparedfrom native lamellar porcine corneal stroma (NLPCS) and was treated with 1000 U/ml benzonase for 5hours. We conducted the following measurements and animal transplantation tocompare DLPCS and NLPCS. The residual DNA was decreased significantly from 367.13 ± 19.96 ng/mg to 15.41 ± 0.65 ng/mg after treatment of benzonase by the detection of fluorescentnucleic acid stain. The residual benzonase was also less than detection limit.There was no significant difference in light transmittance of DLPCS comparedwith NLPCS. The extracts of DLPCS did not inhibit cell proliferation of human cornealepithelial cells, mouse fibroblast (L‐929) and African green monkey kidney cell(Vero cell). The DLPCS was transplanted into the corneas of rabbit by lamellarkeratoplasty. There was no corneal melting and graft rejection been observedwithin 12 months. The images demonstrated that the repairment of corneal nervesand keratocytes of DLPCS were in indentical shape and reflection compared withnormal cornea, and no obvious inflammatory cells were observed postoperation, byin vivo confocal microscopy. We provided novel evidence that the application ofbenzonase may improve the quality of DLPCS.

show abstract

Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy

Chen

Sun

2017

Graefes Arch Clin Exp Ophthalmol

View full text Add to dashboard Cite

show abstract

Arg555Gln Mutation of TGFBI Gene in Geographical-Type Reis—Bücklers Corneal Dystrophy in a Chinese Family

Abstract: In this Chinese family an R555Q mutation of the TGFBI gene was associated with RBCD. As the RBCD phenotype is usually associated with an R124L mutation, this novel genotype-phenotype correlation may prompt further investigation of Bowman's layer corneal dystrophy.

Cited by 9 publications

References 11 publications

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

Application of benzonase in preparation of decellularized lamellar porcine corneal stroma for lamellar keratoplasty

Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy

Contact Info

Product

Resources

About