Cargando…

Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes

PURPOSE: To investigate the phenotypic variability of patients bearing the heterozygous R124H mutation in the TGFBI (transforming growth factor-beta-induced) gene that causes granular corneal dystrophy type 2 (GCD2). METHODS: We describe the phenotypic range of GCD2 heterozygotes for the common R124...

Descripción completa

Detalles Bibliográficos
Autores principales:	Han, Kyung Eun, Choi, Seung-il, Chung, Woo Suk, Jung, Se Hwan, Katsanis, Nicholas, Kim, Tae-im, Kim, Eung Kweon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398492/ https://www.ncbi.nlm.nih.gov/pubmed/22815629

Ejemplares similares

Lysosomal dysfunction of corneal fibroblasts underlies the pathogenesis of Granular Corneal Dystrophy Type 2 and can be rescued by TFEB
por: Choi, Seung‐il, et al.
Publicado: (2020)

Mitomycin C induces apoptosis in cultured corneal fibroblasts derived from type II granular corneal dystrophy corneas
por: Kim, Tae-im, et al.
Publicado: (2008)

Reduced OPA1, Mitochondrial Fragmentation and Increased Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts
por: Choi, Seung-Il, et al.
Publicado: (2023)

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
por: Jun, Ikhyun, et al.
Publicado: (2021)

Exacerbation of Granular Corneal Dystrophy Type 2 After Small Incision Lenticule Extraction
por: Kwak, Jay Jiyong, et al.
Publicado: (2021)

Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts
por: Maeng, Yong-Sun, et al.
Publicado: (2015)

Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2
por: Chang, Myung Soo, et al.
Publicado: (2023)

Comparison of the Predictive Accuracy of Intraocular Lens Power Calculations after Phototherapeutic Keratectomy in Granular Corneal Dystrophy Type 2
por: Yoon, Sook Hyun, et al.
Publicado: (2023)

Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance
por: Mazzotta, Cosimo, et al.
Publicado: (2015)

Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies
por: Yagi-Yaguchi, Yukari, et al.
Publicado: (2016)

Changes in Stress-Strain Index and Corneal Biomechanics in Granular Corneal Dystrophy
por: Heidari, Hamidreza, et al.
Publicado: (2022)

A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene
por: Kim, Jinsun, et al.
Publicado: (2014)

Role of TGFBIp in Wound Healing and Mucin Expression in Corneal Epithelial Cells
por: Maeng, Yong-Sun, et al.
Publicado: (2017)

De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA
por: Ji, Yong Woo, et al.
Publicado: (2022)

Familial association of keratoconus and granular corneal dystrophy: The familial case series
por: Cankaya, Cem, et al.
Publicado: (2018)

Inflammatory Cytokine and Osmolarity Changes in the Tears of Dry Eye Patients Treated with Topical 1% Methylprednisolone
por: Lee, Ji Hwan, et al.
Publicado: (2014)

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
por: Jun, Ikhyun, et al.
Publicado: (2017)

Femtosecond laser-assisted cataract surgery after corneal refractive surgery
por: Ahn, Hyunmin, et al.
Publicado: (2022)

Changes in Spherical Aberration after Various Corneal Surface Ablation Techniques
por: Ahn, Hyun Seok, et al.
Publicado: (2013)

Clinical Outcomes of Small Incision Lenticule Extraction in Myopia: Study of Vector Parameters and Corneal Aberrations
por: Kwak, Jay Jiyong, et al.
Publicado: (2020)

Bilateral Atypical Granular Corneal Dystrophy Associated with Unilateral Keratoconus in a Male Child
por: Dangra, Kavita Lohiya, et al.
Publicado: (2016)

The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype
por: Zhu, Yanan, et al.
Publicado: (2011)

Femtosecond laser-assisted arcuate keratotomy for the management of corneal astigmatism in patients undergoing cataract surgery: Comparison with conventional cataract surgery
por: Ahn, Hyunmin, et al.
Publicado: (2022)

Effect of Light Scattering and Higher-order Aberrations on Visual Performance in Eyes with Granular Corneal Dystrophy
por: Kamiya, Kazutaka, et al.
Publicado: (2016)

Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family
por: Chao-Shern, C, et al.
Publicado: (2018)

Repeated phototherapeutic keratectomy (PTK) followed by PTK with photorefractive keratectomy for anterior granular corneal dystrophy
por: Sridhar, Uma, et al.
Publicado: (2020)

A rare case of bilateral granular corneal dystrophy with keratoconus and primary angle closure glaucoma
por: Rajagopal, Rama, et al.
Publicado: (2022)

Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene
por: Işıkay, Sedat, et al.
Publicado: (2018)

Changes in posterior corneal elevations after combined transepithelial photorefractive keratectomy and accelerated corneal collagen cross-linking: retrospective, comparative observational case series
por: Lee, Hun, et al.
Publicado: (2016)

Effects of varying Notch1 signal strength on embryogenesis and vasculogenesis in compound mutant heterozygotes
por: Ge, Changhui, et al.
Publicado: (2010)

Visual Outcomes Following Deep Anterior Lamellar Keratoplasty in Granular Corneal Dystrophy Types 1 and 2
por: uit de Bosch, Lia M, et al.
Publicado: (2016)

Visual rehabilitation in moderate keratoconus: combined corneal wavefront-guided transepithelial photorefractive keratectomy and high-fluence accelerated corneal collagen cross-linking after intracorneal ring segment implantation
por: Lee, Hun, et al.
Publicado: (2017)

Delayed onset Mycobacterium intracellulare keratitis after laser in situ keratomileusis: A case report and literature review
por: Ko, JaeSang, et al.
Publicado: (2017)

Reliability of RTVue, Visante, and Slit-Lamp Adapted Ultrasonic Pachymetry for Central Corneal Thickness Measurement
por: Hong, Jin Pyo, et al.
Publicado: (2012)

Corneal dystrophies
por: Klintworth, Gordon K
Publicado: (2009)

Deep anterior lamellar keratoplasty outcomes in macular and granular corneal dystrophy – A comparative cross-sectional study
por: Kodavoor, Shreesha Kumar, et al.
Publicado: (2019)

Heterozygote Advantage for Fecundity
por: Gemmell, Neil J., et al.
Publicado: (2006)

Epithelial Wound Healing after Cataract Surgery Comparing Two Different Topical Fluoroquinolones
por: Han, Kyung Eun, et al.
Publicado: (2014)

Spontaneous fracture of an implanted posterior chamber polyimide intraocular lens haptic: A case report
por: Kang, Haemin, et al.
Publicado: (2014)

Lysosomal Trafficking of TGFBIp via Caveolae-Mediated Endocytosis
por: Choi, Seung-il, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_gf34edrepnvd9dl1r3m6ipq7q2