Lattice Corneal Dystrophy Type IV (p.Leu527Arg) Is Caused by a Founder Mutation of theTGFBIGene in a Single Japanese Ancestor

2010 ◽  
Vol 51 (9) ◽  
pp. 4523 ◽  
Author(s):  
Hideki Fukuoka ◽  
Satoshi Kawasaki ◽  
Kenta Yamasaki ◽  
Akira Matsuda ◽  
Akiko Fukumoto ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Type Iv

Transforming growth factor beta‐induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients

2019 ◽  
Vol 47 (7) ◽  
pp. 871-880
Author(s):  
Ezequiel Campos‐Mollo ◽  
Yago Varela‐Conde ◽  
Pedro Arriola‐Villalobos ◽  
Rubén Cabrera‐Beyrouti ◽  
José‐Manuel Benítez‐del‐Castillo ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor Beta ◽  
Autosomal Dominant ◽  
Transforming Growth Factor ◽  
Corneal Dystrophy ◽  
Large Cohort ◽  
Lattice Corneal Dystrophy ◽  
Type Iv ◽  
Growth Factor Beta

Lattice Corneal Dystrophy Type II Associated with Familial Amyloid Polyneuropathy Type IV

Ophthalmology ◽  
1996 ◽  
Vol 103 (7) ◽  
pp. 1106-1110 ◽  
Author(s):  
Shinobu Akiya ◽  
Youko Nishio ◽  
Kenji Ibi ◽  
Hiroshiko Uozumi ◽  
Hiroshi Takahashi ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Familial Amyloid Polyneuropathy ◽  
Type Ii ◽  
Lattice Corneal Dystrophy ◽  
Type Iv ◽  
Amyloid Polyneuropathy

Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA

2002 ◽  
Vol 113 (1) ◽  
pp. 20-22 ◽  
Author(s):  
Kaoru Tsujikawa ◽  
Motokazu Tsujikawa ◽  
Shuji Yamamoto ◽  
Takashi Fujikado ◽  
Yasuo Tano
Keyword(s):  
Founder Mutation ◽  
Japanese Patients ◽  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Type Iiia

scholarly journals A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in theTGFBIGene

2014 ◽  
Vol 28 (1) ◽  
pp. 83 ◽  
Author(s):  
Jinsun Kim ◽  
Kyung A Lee ◽  
Eung Kweon Kim ◽  
Hyung Keun Lee
Keyword(s):  
Corneal Dystrophy ◽  
Korean Patient ◽  
Lattice Corneal Dystrophy ◽  
Type Iv

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

2021 ◽  
pp. 112067212199730
Author(s):  
Aino Maaria Jaakkola ◽  
Petri J Järventausta ◽  
Reetta-Stiina Järvinen ◽  
Pauliina Repo ◽  
Tero T Kivelä ◽  
...  
Keyword(s):  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Late Onset ◽  
Family Members ◽  
Anterior Segment ◽  
Corneal Dystrophy ◽  
Ophthalmological Examination ◽  
Lattice Corneal Dystrophy ◽  
Tgfbi Gene ◽  
Novel Variant

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.

Amyloid and Pro501Thr-mutated βig-h3 gene product colocalize in lattice corneal dystrophy type IIIA

1999 ◽  
Vol 127 (4) ◽  
pp. 456-458 ◽  
Author(s):  
Satoshi Kawasaki ◽  
Kohji Nishida ◽  
Andrew J Quantock ◽  
Atsuyoshi Dota ◽  
Kelly Bennett ◽  
...  
Keyword(s):  
Gene Product ◽  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Type Iiia

Recurrence of Lattice Corneal Dystrophy Caused by Incomplete Removal of Stroma After Deep Lamellar Keratoplasty

Cornea ◽  
2006 ◽  
Vol 25 ◽  
pp. S41-S46 ◽  
Author(s):  
Yu-Feng Yao ◽  
Yu-Qi Jin ◽  
Bei Zhang ◽  
Ping Zhou ◽  
Yong-Ming Zhang ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Lamellar Keratoplasty ◽  
Lattice Corneal Dystrophy ◽  
Incomplete Removal ◽  
Deep Lamellar Keratoplasty

First Genetic Analysis of Lattice Corneal Dystrophy Type I in a Family from Bulgaria

2005 ◽  
Vol 15 (6) ◽  
pp. 804-808 ◽  
Author(s):  
E. Capoluongo ◽  
G. De benedetti ◽  
P. Concolino ◽  
M. Sepe ◽  
R. Ambu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Corneal Dystrophy ◽  
Type I ◽  
Lattice Corneal Dystrophy
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