Disease: Corneal dystrophy Avellino type
- 4-Phenylbutyric acid reduces mutant-TGFBIp levels and ER stress through activation of ERAD pathway in corneal fibroblasts of granular corneal dystrophy type 2
- A case of concomitant keratoconus and granular corneal dystrophy type II
- A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families
- A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online
- Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
- Allelic homogeneity in Avellino corneal dystrophy due to a founder effect
- Altered mitochondrial function in type 2 granular corneal dystrophy
- An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan
- An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree
- Analyses of TGFBI gene mutation spectrum in four Chinese families with corneal dystrophy
- Analysis of <em>TGFBI</em> Gene Mutations in Three Chinese Families with Corneal Dystrophy
- Analysis of deposit depth and morphology in granular corneal dystrophy type 2 using fourier domain optical coherence tomography
- Assessment of the corneal biomechanical features of granular corneal dystrophy type 2 using dynamic ultra-high-speed Scheimpflug imaging
- Association Between Visual Acuity and the Corneal Area Occupied by Granular Lesions, Linear Lesions, or Diffuse Haze in Patients With Granular Corneal Dystrophy Type 2
- Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
- Atypical conjunctival hyaline deposition in a case of granular corneal dystrophy type 2
- Automatic segmentation of corneal dystrophy on photographic images based on texture analysis
- Autophagy in granular corneal dystrophy type 2
- BIGH3 mutation spectrum in corneal dystrophies
- Changes of clinical manifestation of granular corneal deposits because of recurrent corneal erosion in granular corneal dystrophy types 1 and 2
- Characteristic features of granular deposit formation in granular corneal dystrophy type 2
- Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations
- Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature
- Clinical outcome of eight BIGH3-linked corneal dystrophies
- Comparison of corneal deposits after LASIK and PRK in eyes with granular corneal dystrophy type II
- Comparison of the Predictive Accuracy of Intraocular Lens Power Calculations after Phototherapeutic Keratectomy in Granular Corneal Dystrophy Type 2
- Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
- Concurrent presentation of corneal dystrophy and tilted disc syndrome: report of two cases
- Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family
- Corneal dystrophies in Japan
- Corneal Dystrophy
- Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome
- Corneal Electrolysis for Granular Corneal Dystrophy Type 2 (Avellino Corneal Dystrophy) Exacerbation After LASIK
- Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies
- Corneal irregularity and visual function using anterior segment optical coherence tomography in TGFBI corneal dystrophy
- De Novo L509P Mutation of the <em>TGFBI</em> Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA
- Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK
- Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the betaigh3 gene
- Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2
- Disrupted cell cycle arrest and reduced proliferation in corneal fibroblasts from GCD2 patients: a potential role for altered autophagy flux
- Downregulation of IL-7 and IL-7R Reduces Membrane-Type Matrix Metalloproteinase 14 in Granular Corneal Dystrophy Type 2 Keratocyte
- Effects of corneal neovascularization on the manifestations of Avellino corneal dystrophy (granular corneal dystrophy type II)
- Exacerbation of Granular Corneal Dystrophy Type 2 After Small Incision Lenticule Extraction
- Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK
- Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes
- Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses
- Genetics of anterior and stromal corneal dystrophies
- Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3
- Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy
- Granular corneal dystrophy type 2 is associated with morphological abnormalities of meibomian glands
- Granular dystrophy: Not always easy to classify
- Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis
- Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts
- Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): natural history and progression after treatment
- Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene
- Immunolocalization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas
- Impaired autophagy and delayed autophagic clearance of transforming growth factor β-induced protein (TGFBI) in granular corneal dystrophy type 2
- Individual phenotypic variances in a family with Avellino corneal dystrophy
- Inhibitory Effect of Tranilast on Transforming Growth Factor-Beta-Induced Protein in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts
- Intracorneal melatonin delivery using 2-hydroxypropyl-β-cyclodextrin ophthalmic solution for granular corneal dystrophy type 2
- Intraocular lens power calculations for cataract surgery after phototherapeutic keratectomy in granular corneal dystrophy type 2
- Keratoepithelin in secondary corneal amyloidosis
- LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta-induced protein (TGFBIp)
- Lattice Corneal Dystrophy
- Long-term Clinical Outcomes of Phototherapeutic Keratectomy in Corneas With Granular Corneal Dystrophy Type 2 Exacerbated After LASIK
- Lysosomal dysfunction of corneal fibroblasts underlies the pathogenesis of Granular Corneal Dystrophy Type 2 and can be rescued by TFEB
- Melatonin protects against oxidative stress in granular corneal dystrophy type 2 corneal fibroblasts by mechanisms that involve membrane melatonin receptors
- Melatonin reduces endoplasmic reticulum stress and corneal dystrophy-associated TGFBIp through activation of endoplasmic reticulum-associated protein degradation
- Mini Review: Clinical Features and Management of Granular Corneal Dystrophy type 2
- Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2
- Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?
- Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy
- Molecular Pathogenesis of Corneal Dystrophies: Schnyder Dystrophy and Granular Corneal Dystrophy type 2
- Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies
- On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies
- Outcomes of photorefractive keratectomy instead of phototherapeutic keratectomy for patients with granular corneal dystrophy type 2
- Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
- Phototherapeutic keratectomy in diffuse stromal haze in granular corneal dystrophy type 2
- Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family
- Prevalence of granular corneal dystrophy type 2 (Avellino corneal dystrophy) in the Korean population
- Prevalence of granular corneal dystrophy type 2-related <em>TGFBI</em> p.R124H variant in a South Korean population
- Protein Analysis of the TGFBI<sup>R124H</sup> Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy
- Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction
- Recurrence of Avellino Corneal Dystrophy Following Penetrating Keratoplasty: A Case Report
- Reduced OPA1, Mitochondrial Fragmentation and Increased Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts
- Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair
- Sensitive Surface Enhanced Raman Scattering-Based Detection of a BIGH3 Point Mutation Associated with Avellino Corneal Dystrophy
- Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies
- TGF-β regulates TGFBIp expression in corneal fibroblasts via miR-21, miR-181a, and Smad signaling
- TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis
- TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies
- TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China
- TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?
- The alterations of corneal biomechanics in adult patients with corneal dystrophy
- The pathogenesis and treatment of corneal disorders
- The Role of the Reactive Oxygen Species and Oxidative Stress in the Pathomechanism of the Age-Related Ocular Diseases and Other Pathologies of the Anterior and Posterior Eye Segments in Adults
- The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy
- The Value of Reliable Genetic Testing in Refractive Surgery Candidates
- Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders
- Unilateral Granular Type 2 Corneal Dystrophy With Exacerbation After LASIK