·AIM:To investigate the histological characteristics and ultrastructure of recurrent Chinese R124 L mutated corneal dystrophy after keratoplasty.·METHODS:The subjects were enrolled from a Chinese family of c...·AIM:To investigate the histological characteristics and ultrastructure of recurrent Chinese R124 L mutated corneal dystrophy after keratoplasty.·METHODS:The subjects were enrolled from a Chinese family of corneal dystrophy with R124 L 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 R124 L 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 R124 L gene mutation,the corneal epithelia of the recurrent cases are rougher,and the corneal depositions are extra cellular amyloid fibrin.展开更多
A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the pa...A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the patients most severely affected, but shows the disease state to be one of Avellino corneal dystrophy. The previous case reports are extended immunohistological staining using polyclonal antibodies raised against keratofepithelin. This genotype/phenotype correlation study is consistent with incomplete dominance.展开更多
AIM: To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD,also known as GCD3).METHODS: In a five-generation Chinese family,...AIM: To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD,also known as GCD3).METHODS: In a five-generation Chinese family,eight members were identified with RBCD and the rest were unaffected.All members of the family underwent complete ophthalmologic examinations.Exons of TGFBI were amplified by polymerase chain reaction,sequenced,and compared with a reference database.RESULTS: A single heterozygous C>T (R124C) point mutation was found in exon 4 of TGFBI in all the affected members of the pedigree,but not in the unaffected members.CONCLUSION: R124C which was a known mutation for lattice corneal dystrophy type I,segregated with the RBCD in this pedigree.This elucidated the correlation between genotype and phenotype in a Chinese family of RBCD.展开更多
基金Supported by the National Natural Science Foundation of China(No.81770955)the Major Clinical Research Project of Shanghai Shenkang Hospital Development Center(No.SHDC2020CR1043B)+1 种基金the Project of Shanghai Xuhui District Science and Technology(No.2020-015)the Project of Weifang Science and Technology Bureau(No.2021RKX160)。
文摘·AIM:To investigate the histological characteristics and ultrastructure of recurrent Chinese R124 L mutated corneal dystrophy after keratoplasty.·METHODS:The subjects were enrolled from a Chinese family of corneal dystrophy with R124 L 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 R124 L 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 R124 L gene mutation,the corneal epithelia of the recurrent cases are rougher,and the corneal depositions are extra cellular amyloid fibrin.
文摘A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the patients most severely affected, but shows the disease state to be one of Avellino corneal dystrophy. The previous case reports are extended immunohistological staining using polyclonal antibodies raised against keratofepithelin. This genotype/phenotype correlation study is consistent with incomplete dominance.
基金Supported by grants from the National Natural Science Foundation of China (No. NNSF 81000370)
文摘AIM: To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD,also known as GCD3).METHODS: In a five-generation Chinese family,eight members were identified with RBCD and the rest were unaffected.All members of the family underwent complete ophthalmologic examinations.Exons of TGFBI were amplified by polymerase chain reaction,sequenced,and compared with a reference database.RESULTS: A single heterozygous C>T (R124C) point mutation was found in exon 4 of TGFBI in all the affected members of the pedigree,but not in the unaffected members.CONCLUSION: R124C which was a known mutation for lattice corneal dystrophy type I,segregated with the RBCD in this pedigree.This elucidated the correlation between genotype and phenotype in a Chinese family of RBCD.
