Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family

Chao-Shern, Connie; Me, Rao; DeDionisio, Larry; Ke, Bilian; Nesbit, M. Andrew; Marshall, John; Moore, Tara

doi:10.1038/eye.2017.265

Cited by 13 publications

(24 citation statements)

References 11 publications

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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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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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“…Many reports have unfortunately demonstrated the exacerbation of GCD2 after treatment with LASIK (Fig. 2C) (Banning et al, 2006;Chao-Shern et al, 2019;Chao-Shern et al, 2018;Chiu et al, 2007;Jun et al, 2004;Poulsen et al, 2016;Zeng et al, 2017). Therefore, genetic screening for the late onset of heterozygous mutations is recommended before laser refractive procedures, especially in patients with a family history of TGFBI-linked corneal dystrophy (Aldave et al, 2007;Chao-Shern et al, 2019;Chao-Shern et al, 2018;Copeland and Afshari, 2013).…”

Section: Genetic Testing Before Vision Correctionmentioning

confidence: 99%

Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies

Nielsen

Poulsen

Lukassen

et al. 2020

Progress in Retinal and Eye Research

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Transforming growth factor-β-induced protein (TGFBIp), an extracellular matrix protein, is the second most abundant protein in the corneal stroma. In this review, we summarize the current knowledge concerning the expression, molecular structure, binding partners, and functions of human TGFBIp. To date, 74 mutations in the transforming growth factor-β-induced gene (TGFBI) are associated with amyloid and amorphous protein deposition in TGFBI-linked corneal dystrophies. We discuss the current understanding of the biochemical mechanisms of TGFBI-linked corneal dystrophies and propose that mutations leading to granular corneal dystrophy (GCD) decrease the solubility of TGFBIp and affect the interactions between TGFBIp and components of the corneal stroma, whereas mutations associated with lattice corneal dystrophy (LCD) lead to a destabilization of the protein that disrupts proteolytic turnover, especially by the serine protease HtrA1. Future research should focus on TGFBIp function in the cornea, confirmation of the biochemical mechanisms in vivo, and the development of disease models. Future therapies for TGFBI-linked corneal dystrophies might include topical agents that regulate protein aggregation or gene therapy that targets the mutant allele by CRISPR/Cas9 technology.

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“…The influence of homozygous R124H mutation on cornea is more seriously affected than heterozygous mutation [4,6,[9][10]13] . Several literature have been reported that corneal deposits in the interface of laser-assisted in situ keratomileusis (LASIK) flap increased postoperatively in the patients with heterozygous ACD initiating 2-5y post-LASIK [3][4][5][10][11][14][15][16][17][18][19][20] , which may cause serious vision loss. Until now, the only method to treat transforming growth factor beta-induced protein (TGFBIp) corneal malnutrition has been a corneal transplant or keratectomy, but the recurrence of protein deposition is unavoidable [9,20] .…”

Section: Introductionmentioning

confidence: 99%

Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK

Jiang¹,

Zhang²

2021

Int J Ophthalmol

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AIM: To reveal the importance of TGFBI gene screening for candidates with a family history of corneal disease or granular opacities in corneal stroma before refractive surgery. METHODS: A 37-year-old male (proband) underwent bilateral laser-assisted in situ keratomileusis (LASIK) in 2002, with right vision decreased significantly in 2006. The proband and other 32 members of the family underwent a detailed ophthalmic examination, including vision acuity, intraocular pressure, slit-lamp photograph, fundus examination, optical coherence tomography (OCT) of cornea, and in vivo confocal microscope (IVCM) and peripheral blood was used for genomic DNA extraction. Seventeen TGFBI gene exons were analyzed via polymerase chain reaction amplification and direct sequencing. RESULTS: Slit-lamp, IVCM, and OCT images showed that a large amount of dense and confluent granular opaque were seen at the interfaces of the flap and remnant stromal bed in right and light degree in left eye. Sanger sequencing showed that there was a 371G>A mutation (CGC>CAC) in exon 4, which indicated that he harbored a heterozygote R124H mutation, identifying the diagnosis of Avellino corneal dystrophy (ACD). Among the other 32 family members, 6 of them harbored the identical mutation to that in the proband. CONCLUSION: ACD will worsen and recur after LASIK. Preoperative gene-screening for TGFBI mutations is important in diagnosing ACD.

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Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family

Cited by 13 publications

References 11 publications

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

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

Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies

Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK

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