TGFBI gene mutations in Brazilian patients with corneal dystrophy

Solari, Helena Parente; Ventura, Marcelo Palis; Perez, Ana Beatriz Alvarez; Sallum, Juliana Maria Ferraz; Burnier, Miguel N.; Belfort, Rubens

doi:10.1038/sj.eye.6702264

Cited by 10 publications

(5 citation statements)

References 19 publications

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“…Homozygous ACD has been further classified phenotypically as Type I or Type II depending on whether the anterior stromal opacity is spot-like or reticular 38. However, there have been reports of cases that manifest the phenotype of ACD but have other mutations of TGFBI other than R124H 20, 21. A D123H TGFBI mutation has been associated with ACD in Vietnamese patients 7.…”

Section: Discussionmentioning

confidence: 99%

“…A D123H TGFBI mutation has been associated with ACD in Vietnamese patients 7. Solari et al described a Brazilian patient diagnosed with ACD, but carried the R555W TGFBI mutation 21. Kocak-Altintas et al investigated a Turkish family, whose members were affected by corneal dystrophy, describing the corneal deposits to be similar to those in GCD 20.…”

Section: Discussionmentioning

confidence: 99%

“…For this reason, many investigators think that direct examination may be insufficient for the definite diagnosis of ACD and that mutation analysis confirming the R124H TGFBI mutation should be required 9, 19, 20. However, there have been reported cases of patients having a clinico-pathological diagnosis of ACD but have the TGFBI R555W mutation 20, 21. The current work describes three unrelated cases that were clinically and histopathologically diagnosed as ACD, but having the R124C TGFBI mutation, which is typically associated with lattice corneal dystrophy (LCD).…”

Section: Introductionmentioning

confidence: 99%

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Granular and Lattice Deposits in Corneal Dystrophy Caused by R124C Mutation of TGFBIp

Patel

Chang

Harocopos

et al. 2010

Cornea

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Purpose-Both granular and lattice deposits are present in Avellino corneal dystrophy (ACD), primarily associated with R124H mutation of transforming growth factor β-induced protein (TGFBI). We investigated the presence of these deposits in other TGFBI mutations and the use of Thioflavin-T (ThT), a fluorescent amyloid stain for characterizing corneal amyloid deposits.Methods-Surgical corneal specimens of three unrelated patients clinically diagnosed with ACD were studied. Corneal sections from normal and prior patients with lattice corneal dystrophy (LCD) were used as controls. Histochemical studies were performed with Congo red and Masson trichrome, and fluorescent imaging with scanning laser confocal microscopy was performed for ThT and an anti-TGFBI antibody staining.Results-Clinical and histopathological findings supported the diagnoses of ACD in these three cases, in whom granular deposits stained with Masson trichrome and lattice deposits stained with ThT and Congo red showing birefringence and dichroism as expected. However, genotyping revealed a heterozygous R124C mutation in each case. In addition to classical stromal deposits, unique subepithelial TGFBI aggregates, that stain with neither ThT nor trichrome, were observed. In control LCD sections, stromal deposits stained with ThT but not with trichrome, confirming lack of granular deposits.Conclusions-Our results demonstrate that both granular and lattice deposits can be associated with R124C mutation, other than R124H. An additional feature of non-hyaline, non-amyloid TGFBI sub-epithelial deposits might substantiate such cases be categorized as a variant form of LCD or ACD. This study further validates ThT staining for detection of amyloid TGFBI deposits.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Granular and Lattice Deposits in Corneal Dystrophy Caused by R124C Mutation of TGFBIp

Patel

Chang

Harocopos

et al. 2010

Cornea

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“…One Brazilian patient with the p.Arg555Trp mutation was described to have GCD2, 64 and a Mexican patient was reported to have a RBCD phenotype. 52 However, no histological or electron microscopy data were available for these patients.…”

Section: Phenotype-genotype Correlations In Tgfbimentioning

confidence: 99%

Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

et al. 2014

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“…4 Watanabe et al reported that there are Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family two phenotypic variations of patients with the p.R124H mutation. 4,5 Several additional mutations in the TGFBI, including Leu550Pro, 6 Arg555Trp, 7 and Met619Lys, 8 have also been reported to lead to GCD2. The phenotypic and genetic heterogeneity of GCD2 complicates its diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family

Zhang¹,

Liu²,

He³

et al. 2019

European Journal of Ophthalmology

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Purpose: The aim of this study was to analyze the relevant gene mutations in a Chinese family with special phenotypic variants of granular corneal dystrophy type 2 with cornea guttata. Methods: A total of 11 individuals from the affected family underwent complete ophthalmic examination. Genomic DNA was extracted from peripheral leukocytes of affected and unaffected family members. High-throughput sequencing was performed to screen for mutations in 290 genes associated with inherited ophthalmic diseases. Results were validated by bidirectional Sanger sequencing. Results: An Arg124His (R124H) mutation of the transforming growth factor beta-induced gene was identified in three members of the affected family: the proband (II-1), his mother (I-2), and his son (III-1). The eyes of the proband and his mother had bilateral superficial whitish ring patches with clear centers occupying their central corneas and appeared to be discoid or ring shaped. In addition, specular microscopic examination showed the presence of dark, round bodies. In vivo confocal microscopy showed some hyporeflective round images (cornea guttata), containing occasionally central highlight, in the proband, his mother, and one of his elder sisters. Conclusion: We report, for the first time, atypical granular corneal dystrophy type 2 with cornea guttata associated with a single R124H mutation in a Chinese family. Our findings emphasize that genotyping is essential for the accurate diagnosis and classification of granular corneal dystrophy type 2.

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TGFBI gene mutations in Brazilian patients with corneal dystrophy

Cited by 10 publications

References 19 publications

Granular and Lattice Deposits in Corneal Dystrophy Caused by R124C Mutation of TGFBIp

Granular and Lattice Deposits in Corneal Dystrophy Caused by R124C Mutation of TGFBIp

Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family

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