Clinical outcome of eight BIGH3-linked corneal dystrophies

Ellies, Pierre; Renard, G; Valleix, Sophie; Boëlle, Pierre‐Yves; Dighiero, P.

doi:10.1016/s0161-6420(01)01025-9

Cited by 49 publications

(40 citation statements)

References 23 publications

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“…The differential diagnosis can be made by clinical and histological features or by the genetic findings. 18,19,17 In our study, the families related to the R555Q mutation presented an early onset of subepithelial corneal opacities associated with recurrent erosions suggestive of Reis-Bü cklers's dystrophy.…”

Section: Discussionmentioning

confidence: 48%

“…The mutation in this case could be localized in other exon or intron of the TGFBI gene or could be detected at another gene. 16,17 The A546T mutation in the TGFBI gene that had been detected in the proband of family 2, was previously reported in cases of lattice dystrophy type IIIA-like that exhibited deposits similar to those observed in LCDI. 14 In four probands diagnosed with Reis-Bü cklers's corneal dystrophy, three were found to have the R555Q mutation reported to cause Thiel-Behnke dystrophy, whereas only one had the R124L mutation reported to cause Reis-Bü cklers's dystrophy.…”

Section: Discussionmentioning

confidence: 75%

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TGFBI gene mutations in Brazilian patients with corneal dystrophy

Solari

Ventura

Perez

et al. 2006

Eye

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Purpose To investigate the transforming growth factor beta-induced gene (TGFBI) mutations in Brazilian patients with corneal dystrophy and to evaluate the phenotypegenotype correlation in these patients. Methods A total of 11 unrelated families were studied. The diagnosis of corneal dystrophy was based on clinical and histopathological findings. Genomic DNA was extracted from peripheral blood leucocytes, and exons 4 and 12 of the TGFBI gene were amplified by polymerase chain reaction followed by direct sequencing on both strands. Results Five different mutations in the TGFBI gene were found in the probands. We identified the following mutations: lattice corneal dystrophyFR124C and A546T; Reis-Bü cklers corneal dystrophyFR555Q and R124L; granular corneal dystrophyFR555W and Avellino dystrophyFR555W. In three of the 11 studied families there was no mutation in exons 4 and 12. Conclusions This is the first report of mutations in the TGFBI gene in a series of Brazilian patients with corneal dystrophy. The findings indicate that TGFBI gene screening should be considered in the diagnosis of corneal dystrophy.

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Section: Discussionmentioning

confidence: 48%

Section: Discussionmentioning

confidence: 75%

TGFBI gene mutations in Brazilian patients with corneal dystrophy

Solari

Ventura

Perez

et al. 2006

Eye

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“…The p.Arg555Trp has been reported several times and noticeably, if compared to other TGFBI mutations, it has been correlated with a lower severity (7) as assessed by age at first graft and time to recurrence. On the contrary, a higher degree of severity has been described in patients homozygous for the p.Arg555Trp.…”

Section: Discussionmentioning

confidence: 94%

Unusual early recurrence of granular dystrophy after deep anterior lamellar keratoplasty: case report

Rama¹,

Knutsson²,

Rojo³

et al. 2013

Arq. Bras. Oftalmol.

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“…GCD3 has been reported to have the worst prognosis among TGFBI -related dystrophies with an early need of surgical treatment and also early recurrence of the disease after corneal transplantation [15] . Since the present study describes a novel phenotypic variant with Arg124Leu mutation, the clinical response and complications that may arise in such patients remain to be seen.…”

Section: Discussionmentioning

confidence: 99%

A Novel <i>TGFBI</i> Phenotype with Amyloid Deposits and Arg124Leu Mutation

Paliwal

Gupta²,

Tandon³

et al. 2011

Ophthalmic Res

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Aim: To report a unique transforming-growth-factor-β-induced (TGFBI) gene phenotype with Arg124Leu mutation in an Indian family. Methods: A family with 5 affected members presented to our hospital and were clinically diagnosed as suffering from Bowman layer dystrophy after examination. Peripheral blood samples were collected in EDTA from all for genomic DNA isolation. Keratoplasty was performed in 2 patients followed by histopathological evaluation of the cornea. DNA was subjected to PCR amplification of TGFBI and tumor-associated calcium signal transducer 2 (TACSTD2) genes followed by direct sequencing of all coding exons to identify the causative mutations. Results: Slitlamp examination of the cornea revealed superficial reticular opacities with diffuse anterior stromal haze suggestive of Bowman layer dystrophy but histopathological examination revealed the presence of both hyaline and amyloid deposits in the cornea. TGFBI sequencing revealed a heterozygous mutation, Arg124Leu (c.418 G→T) in all the affected members while TACSTD2 did not show any changes. Conclusions: Molecular analysis established the diagnosis of a novel TGFBI variant with Arg124Leu mutation. The presence of lattice- like lines clinically and histopathological demonstration of both amyloid and hyaline deposits with the occurrence of Arg124Leu mutation in all the affected family members are an unusual phenomenon and are here described for the first time.

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Clinical outcome of eight BIGH3-linked corneal dystrophies

Cited by 49 publications

References 23 publications

TGFBI gene mutations in Brazilian patients with corneal dystrophy

TGFBI gene mutations in Brazilian patients with corneal dystrophy

Unusual early recurrence of granular dystrophy after deep anterior lamellar keratoplasty: case report

A Novel <i>TGFBI</i> Phenotype with Amyloid Deposits and Arg124Leu Mutation

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