Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI

Kattan, Jaffer M.; Serna‐Ojeda, Juan Carlos; Sharma, Asha; Kim, Eung Kweon; Ramírez-Miranda, Arturo; Cruz‐Aguilar, Marisa; Cervantes, Aleck; Frausto, Ricardo F.; Zenteno, Juan Carlos; Graue-Hernández, Enrique O; Aldave, Anthony J.

doi:10.1097/ico.0000000000001045

Cited by 7 publications

(5 citation statements)

References 26 publications

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“…However, the deposits observed in our patients exhibited distinct patterns and were located exclusively in the Bowman layer, in contrast to those in previous reports, in which the deposits were mainly located at the interface. 7,9,13 The deposits observed at the Bowman layer in Reis-Bucklers or Thiel-Behnke dystrophies bear resemblance to the OCT images shown in our study. However, distinct patterns were discerned in the slit-lamp images of our subjects.…”

Section: Discussionsupporting

confidence: 79%

Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery

Yeh

Hsu

et al. 2023

Cornea

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Purpose: This study aimed to report cases of bilateral corneal Bowman layer deposits in 4 patients with a history of keratorefractive surgery. To our knowledge, this condition has not previously been reported and should be distinguished from granular corneal dystrophy type 2 and other corneal dystrophies. Methods: We reviewed all available medical records that were collected between January 2010 and December 2021 at a tertiary referral center and performed whole-exome sequencing to provide diagnostic information. Results: Four patients exhibited similar bilateral corneal deposits that were observed more than 10 years after keratorefractive surgery. The patients' ages ranged from 36 to 53 years; 3 of the 4 patients were female. Three patients received laser in situ keratomileusis surgery, and 1 received radial keratotomy. All 4 patients denied having a family history of ocular diseases and reported an uneventful postoperative course. On examination, the best-corrected visual acuity ranged from 6/10 to 6/6 in all 4 patients. Slit-lamp examination revealed bilateral superficial corneal deposits involving the central cornea, and anterior segment optical coherence tomography revealed hyperreflective deposits located in the Bowman layer. Such unique manifestations suggested corneal dystrophy; thus, whole-exome sequencing was performed on all 4 patients. Only 1 patient exhibited a missense mutation in TGFBI. We further analyzed common de novo mutations to explore possible candidate genes associated with this presentation. Conclusions: We report a rare entity of presumed corneal dystrophy with deposits located in the Bowman layer in 4 patients who had received keratorefractive surgery. Clarifying the underlying pathophysiology and genetic predisposition of this disease may aid in diagnosing and preventing potential complications after keratorefractive surgery.

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Section: Discussionsupporting

confidence: 79%

Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery

Yeh

Hsu

et al. 2023

Cornea

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“…TGFβI encodes an ECM protein induced by TGFβ that interacts with collagen . Recent studies have shown that mutations in TGFβI in humans cause a condition known as granular corneal dystrophy, which is characterized by opaque deposits in the corneal stroma . Therefore, its upregulation in our data suggests that TGFβI may play a role in organizing collagen fibrils synthesized by the corneal endothelium and keratocytes during early development.…”

Section: Resultsmentioning

confidence: 61%

Transcriptomic analysis of differential gene expression during chick periocular neural crest differentiation into corneal cells

Lwigale

2019

Developmental Dynamics

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Background: Multipotent neural crest cells (NCC) contribute to the corneal endothelium and keratocytes during ocular development, but the molecular mechanisms that underlie this process remain poorly understood. We performed RNA-Seq analysis on periocular neural crest (pNC), corneal endothelium, and keratocytes and validated expression of candidate genes by in situ hybridization. Results: RNA-Seq profiling revealed enrichment of genes between pNC and neural crest-derived corneal cells, which correspond to pathways involved in focal adhesion, ECM-receptor interaction, cell adhesion, melanogenesis, and MAPK signaling. Comparisons of candidate NCC genes to ocular gene expression revealed that majority of the NCC genes are expressed in the pNC, but they are either differentially expressed or maintained during corneal development. Several genes involved in RA, TGFβ, and Wnt signaling pathways and their modulators are also differentially expressed. We identified differentially expressed transcription factors as potential downstream candidates that may instruct expression of genes involved in establishing corneal endothelium and keratocyte identities. Conclusion: Combined, our data reveal novel changes in gene expression profiles as pNC differentiate into highly specialized corneal endothelial cells and keratocytes. These data serve as platform for further analyses of the molecular networks involved in NCC differentiation into corneal cells, and provide insights into genes involved in corneal dysgenesis and adult diseases.

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“…To our knowledge, 69 disease-associated variants in the transforming growth factor beta-induced gene (TGFBI, OMIM 601692) have been described as involved in different subtypes of CDs in patients. The IC3D classi cation describes TGFBI-linked dystrophies by the recognition that they affect multiple layers rather than being con ned to one corneal layer (7)(8)(9)(10)(11)(12)(13)(14). Several phenotypes have been described according to the corneal layer alteration and the Investigation of pathogenic mutations in the TGFBI gene, with the exception of metabolic affections.…”

Section: Discussionmentioning

confidence: 99%

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.

BENBOUCHTA

Jaouad

TAZI³

et al. 2020

Preprint

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Background: Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, non-inflammatory bilateral corneal diseases which are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths of the cornea. Clinical symptoms revealed bilaterally multiple superficial, epithelial, and stromal anterior granular opacities, in different stages of severity among three patients of this family. 99 genes are involved in CDs.The aim of this study is to identify pathogenic variant caused atypical corneal dystrophy in a large Moroccan family and to describe the clinical phenotype with their severe different stages of evolution.Case presentation: In this study, we report a large Moroccan family with CD. Whole Exome Sequencing (WES) was performed in the three affected members who shared a phenotype of a corneal dystrophy in different stages of severity. The variant validation and familial segregation were done by Sanger sequencing in affected sister and mothers and in two unaffected brothers. Whole exome sequencing showed a novel heterozygous mutation (c.1772C>A; p.Ser591Tyr) in TGFBI gene. Clinical examinations demonstrated bilaterally multiple superficial, epithelial and stromal anterior granular opacities; in different stages of severity among three patients of this family. Conclusions: This report presents a novel mutation in TGFBI gene, found in three family members affected with different phenotypic aspects. This mutation is associated with Thiel-Behnke corneal dystrophy and therefore, it could be considered as a novel phenotype genotype correlation, which will help in genetic counseling for this family

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Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI

Cited by 7 publications

References 26 publications

Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery

Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery

Transcriptomic analysis of differential gene expression during chick periocular neural crest differentiation into corneal cells

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.

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