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

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

scholarly journals A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA

1998 ◽  
Vol 62 (3) ◽  
pp. 719-722 ◽  
Author(s):  
Shuji Yamamoto ◽  
Masaki Okada ◽  
Motokazu Tsujikawa ◽  
Yoshikazu Shimomura ◽  
Kohji Nishida ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Type Iiia

A new mutation (A546T) of the βig-h3 gene responsible for a French lattice corneal dystrophy type IIIA

2000 ◽  
Vol 129 (2) ◽  
pp. 248-251 ◽  
Author(s):  
Paul Dighiero ◽  
Severine Drunat ◽  
Pierre Ellies ◽  
François D’Hermies ◽  
Michèle Savoldelli ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
New Mutation ◽  
Lattice Corneal Dystrophy ◽  
Type Iiia

Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments

Cornea ◽  
2014 ◽  
Vol 33 (12) ◽  
pp. 1324-1331 ◽  
Author(s):  
Ji Won Jung ◽  
Sang ah Kim ◽  
Eun Min Kang ◽  
Tae-im Kim ◽  
Hyun-Soo Cho ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Type Iiia ◽  
Surgical Treatments

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

Delayed Onset of Lattice Corneal Dystrophy Type IIIA Due to a Novel T621P Mutation inTGFBI

2016 ◽  
Vol 32 (5) ◽  
pp. 356-356 ◽  
Author(s):  
Jeihoon Lee ◽  
Yong Woo Ji ◽  
Si Yoon Park ◽  
Kyoung Yul Seo ◽  
Tae-im Kim ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Delayed Onset ◽  
Lattice Corneal Dystrophy ◽  
Type Iiia

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.

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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