Mutation screening of <i>TGFBI</i> in two Iranian Avellino corneal dystrophy pedigrees

Alavi, Afagh; Elahi, Elahe; Rahmati-Kamel, Mohsen; Karimian, Farid; Rezaei-Kanavi, Mojgan

doi:10.1111/j.1442-9071.2007.01649.x

Cited by 4 publications

(4 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition to these amyloid deposits located in the superficial stroma, amyloid was also noted in the mid- to deep stromal fusiform lesions 4. These findings have been confirmed by many other investigators 3, 8, 11, 15, 24. Thus, ACD can be histopathologically defined as having both trichrome-stained hyaline deposits (corresponding to granular deposits) and Congo red or ThT-stained amyloid deposits (corresponding to lattice deposits).…”

Section: Discussionsupporting

confidence: 72%

“…Patients with homozygous mutations show more severity in phenotype compared to those with heterozygous mutations 14. ACD has frequently been misdiagnosed clinically as GCD I, which is usually associated with TGFBI R555W mutation 11, 15, 16. This is probably due to the late onset of lattice deposits in ACD cases, and unfamiliarity with icicle and star-shaped opacities, characteristic of ACD, when lattice lines may not be obvious 17, 18.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Patel

Chang

Harocopos

et al. 2010

Cornea

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 72%

Section: Introductionmentioning

confidence: 99%

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

Patel

Chang

Harocopos

et al. 2010

Cornea

View full text Add to dashboard Cite

show abstract

“…8 Subsequently, with widespread availability of molecular diagnostic techniques, it has also been reported from Germany, 3 Ireland, 9 Europe, 7 Japan, [10][11][12] France, 13 South Korea, 14,15 the United Kingdom, 16 and Iran. 17 Despite specific TGFBI mutations being associated with each of these corneal dystrophies, atypical and variable phenotypes [18][19][20][21] along with extensive intrafamilial and interfamilial variations 22 are seen and genotype-phenotype correlation is not always possible.…”

Section: Discussionmentioning

confidence: 99%

“…8 Many cases of ACD have subsequently been reported from other countries. 3,7,[9][10][11][12][13][14][15][16][17] This study describes for the first time, to our knowledge, ACD from India in 2 families with An isolated gray-white lesion is seen in the right eye (A) (white arrow). Also seen is a persistent pupillary membrane (yellow arrow).…”

Section: Commentmentioning

confidence: 99%

Clinical and Genetic Profile of Avellino Corneal Dystrophy in 2 Families From North India

Paliwal

Gupta²,

Tandon³

et al. 2009

Arch Ophthalmol

View full text Add to dashboard Cite

Objective: To report Avellino corneal dystrophy and underlying R124H mutation in 2 families of Indian origin.Methods: Peripheral blood was collected in EDTA for genomic DNA isolation from leukocytes of all affected and unaffected individuals. Amplification of transforming growth factor ␤-induced gene (TGFBI) using polymerase chain reaction followed by direct sequencing was carried out to determine the mutations underlying the disorder. A detailed clinical evaluation was undertaken to establish a genotype-phenotype correlation.Results: R124H mutation resulting from a missense heterozygous substitution of G to A at nucleotide 418 of TGFBI was detected in all affected members of the 2 families. The affected individuals were clinically diagnosed as having granular corneal dystrophy. Histopathologi-cal examination was not done because no surgical intervention was undertaken.

show abstract

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies

Jozaei

Javadi

Safari

et al. 2022

Ophthalmic Genetics

View full text Add to dashboard Cite

Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees

Cited by 4 publications

References 31 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 Profile of Avellino Corneal Dystrophy in 2 Families From North India

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies

Contact Info

Product

Resources

About