Lattice corneal dystrophy type 1

A hereditary autosomal dominant form of corneal dystrophy with significant phenotypic variability. It is characterized by polymorphic geographic deposits at BOWMAN'S MEMBRANE, lattice corneal dystrophy, recurrent corneal ulceration, and mild progressive visual impairment. Mutations in the TGFBI gene have been identified. OMIM: 122200

Also Known As:

Networked: 31 relevant articles (2 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Amyloid Plaque
2.	Hereditary Corneal Dystrophies
3.	Corneal dystrophy Avellino type
4.	gelatinous drop-like Corneal dystrophy

Experts

1.	Goto, Yuji: 2 articles (08/2013 - 03/2011)
2.	Kaji, Yuichi: 2 articles (08/2013 - 03/2011)
3.	Yagi, Hisashi: 2 articles (08/2013 - 03/2011)
4.	Herrera, Luisa: 2 articles (08/2010 - 05/2008)
5.	Romero, Pablo: 2 articles (08/2010 - 05/2008)
6.	Bai, Hua: 1 article (01/2022)
7.	He, Jiahuan: 1 article (01/2022)
8.	Huang, Yifei: 1 article (01/2022)
9.	Li, Feng: 1 article (01/2022)
10.	Tian, Lei: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lattice corneal dystrophy type 1:

1.	Ophthalmic Solutions (Eye Drops)IBA 01/01/2012 - "Despite the limitation of this study setting, corneal epithelial debridement followed by administration of fibronectin eye drops seems to be effective in improving visual acuity in cases of lattice corneal dystrophy type I caused by the R124C mutation of the TGFBI gene. " 01/01/2012 - "New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops."
2.	Fibronectins (Fibronectin)IBA 01/01/2012 - "Despite the limitation of this study setting, corneal epithelial debridement followed by administration of fibronectin eye drops seems to be effective in improving visual acuity in cases of lattice corneal dystrophy type I caused by the R124C mutation of the TGFBI gene. " 01/01/2012 - "New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops."
3.	Amyloid (Amyloid Fibrils)IBA 10/01/1982 - "Amyloid was identified by light and electron microscopy within corneal grafts of two male siblings from a family with lattice corneal dystrophy type 1. These deposits indicate a recurrent disease within the donor tissue, and we believe this reflects an infiltration of the grafts by genetically abnormal host corneal fibroblasts. " 09/15/1987 - "Image analysis disclosed that the cross-sectional size of the large stromal amyloid deposits was significantly greater than those in age-matched patients with lattice corneal dystrophy type I. All patients had a discontinuous band of amyloid (15 to 25 micron wide) in the superficial stroma beneath Bowman's layer, which usually had only one or two small disruptions. " 11/01/1998 - "Histopathological examination revealed amyloid deposits consisting of short and thin amyloid fibers and lattice corneal dystrophy type I. The heterozygous Arg124Cys mutation reported in Caucasian lattice corneal dystrophy caused severe lattice corneal dystrophy consisting of short and thin amyloid fibers in a Japanese family. " 03/25/2011 - "Mutations in keratoepithelin are associated with blinding ocular diseases, including lattice corneal dystrophy type 1 and granular corneal dystrophy type 2. These diseases are characterized by deposits of amyloid fibrils and/or granular non-amyloid aggregates in the cornea. " 10/01/1999 - "The aim of this investigation was to discover whether or not these apolipoproteins associate with corneal amyloid in gelatinous drop-like corneal dystrophy (GDCD) and lattice corneal dystrophy type I (LCD-I). "
4.	betaIG-H3 protein (keratoepithelin)IBA 06/01/1998 - "Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I." 04/01/1998 - "Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. " 03/01/1998 - "The beta-IG-h3 gene encoding keratoepithelin on the long arm of chromosome 5 has recently been described as disease gene for lattice corneal dystrophy type I as well as for three other corneal dystrophies with autosomal dominant pattern of inheritance. " 01/01/1998 - "Recently RBCD, together with lattice corneal dystrophy type I (LCDI), granular corneal dystrophy (CDGG1) and Avellino stromal dystrophy (ASD), all mapped on 5q31, were found to be associated to four different mutations in the beta ig-h3 gene which codify for kerato-epithelin. " 04/01/2014 - "In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or an A546D/P551Q double substitution in TGFBIp (transforming growth factor beta induced protein) can be ascribed to (i) a difference in the proteomes of corneal amyloid deposits, (ii) altered proteolysis of TGFBIp, or (iii) structural changes of TGFBIp introduced by the P551Q amino acid substitution. "
5.	GelsolinIBA 01/01/1998 - "Ultrastructural localization of gelsolin in lattice corneal dystrophy type I." 07/01/1992 - "Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I." 01/01/1998 - "In the light of recent studies into lattice corneal dystrophies, with particular reference to gelsolin immunoreactivity, the authors set out to determine the ultrastructural localization of gelsolin molecules in lattice corneal dystrophy type I. Immunoelectron microscopy with a monoclonal antibody against the COOH-terminal of the native gelsolin molecule (clone GS-2C4) was used to compare antigelsolin reactivity in normal and dystrophic corneas. "
6.	Small Interfering RNA (siRNA)IBA 02/18/2014 - "This study aimed to investigate the potency and specificity of short-interfering RNA (siRNA) treatment for TGFBI-Arg124Cys lattice corneal dystrophy type I (LCDI) using exogenous expression constructs in model systems and endogenous gene targeting in an ex vivo model using corneal epithelial cell cultures. "
7.	ProteomeIBA 04/01/2014 - "In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or an A546D/P551Q double substitution in TGFBIp (transforming growth factor beta induced protein) can be ascribed to (i) a difference in the proteomes of corneal amyloid deposits, (ii) altered proteolysis of TGFBIp, or (iii) structural changes of TGFBIp introduced by the P551Q amino acid substitution. "
8.	Monoclonal AntibodiesIBA 01/01/1998 - "In the light of recent studies into lattice corneal dystrophies, with particular reference to gelsolin immunoreactivity, the authors set out to determine the ultrastructural localization of gelsolin molecules in lattice corneal dystrophy type I. Immunoelectron microscopy with a monoclonal antibody against the COOH-terminal of the native gelsolin molecule (clone GS-2C4) was used to compare antigelsolin reactivity in normal and dystrophic corneas. "
9.	chironIBA 09/01/2004 - "This study was designed to evaluate the therapeutic potential of phototherapeutic keratectomy (PTK) for the treatment of lattice corneal dystrophy type I. PTK was performed with the Chiron Technolas Chiron Keracor 217c on a series of 19 eyes of 13 patients with lattice dystrophy type I. Mean patient age was 38.9 years. "
10.	DNA (Deoxyribonucleic Acid)IBA 11/01/2003 - "Genomic DNA was extracted from buccal epithelial cells of four affected members of an American family with lattice corneal dystrophy type I. All 17 exons of the TGFBI gene were evaluated by PCR amplification and direct sequencing. " 07/01/1999 - "DNA was extracted from leukocytes in four members (three affected and one unaffected) of a Japanese family with lattice corneal dystrophy type I. Exon 12 of the beta ig-h3 gene was amplified and analyzed with a molecular biologic method. " 11/01/1998 - "Deoxyribonucleic acid was extracted from leukocytes in 16 members (12 affected and 4 unaffected) of a Japanese family with lattice corneal dystrophy type I. Exon 4 of the betaig-h3 gene was amplified and analyzed using molecular biological methods. " 08/13/2010 - "Snellen acuity tests, anterior segment slit lamp examinations, dilated fundus evaluations, and tonometry were performed for seven patients--five females and two males belonging to three unrelated families--affected with lattice corneal dystrophy Type I. Genomic DNA was also extracted from peripheral leukocytes from the seven patients and four healthy relatives. " 05/01/2000 - "To report five unrelated Japanese individuals with "gelatino-lattice corneal dystrophy that clinically resembled, to some extent, gelatinous drop-like corneal dystrophy and lattice corneal dystrophy type 1. Genomic DNA isolated from the five individuals with "gelatino-lattice corneal dystrophy was used as a template for polymerase chain reaction to amplify all exons of the candidate gene betaig-h3 and M1S1. "

Therapies and Procedures

1.	Debridement 01/01/2012 - "Despite the limitation of this study setting, corneal epithelial debridement followed by administration of fibronectin eye drops seems to be effective in improving visual acuity in cases of lattice corneal dystrophy type I caused by the R124C mutation of the TGFBI gene. " 01/01/2012 - "New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops."
2.	Keratectomy 09/01/2004 - "[Phototherapeutic keratectomy in the treatment of lattice corneal dystrophy type I]." 09/01/2004 - "This study was designed to evaluate the therapeutic potential of phototherapeutic keratectomy (PTK) for the treatment of lattice corneal dystrophy type I. PTK was performed with the Chiron Technolas Chiron Keracor 217c on a series of 19 eyes of 13 patients with lattice dystrophy type I. Mean patient age was 38.9 years. "
3.	Corneal Transplantation (Keratoplasty) 01/01/2012 - "This treatment may be one option for temporarily improving visual acuity in lattice corneal dystrophy type I and thus may delay the requirement for phototherapeutic keratoplasty or keratoplasty." 07/01/2001 - "To report a patient with lattice corneal dystrophy type I (LCDI) who developed a triple anterior chamber after full-thickness lamellar keratoplasty (LKP). " 07/01/1998 - "Two sisters, aged 33 and 35, underwent uncomplicated penetrating keratoplasty for lattice corneal dystrophy type 1. Both patients, as well as their younger brother, had experienced frequent recurrent epithelial erosions prior to undergoing corneal grafting. "
4.	Slit Lamp 08/13/2010 - "Snellen acuity tests, anterior segment slit lamp examinations, dilated fundus evaluations, and tonometry were performed for seven patients--five females and two males belonging to three unrelated families--affected with lattice corneal dystrophy Type I. Genomic DNA was also extracted from peripheral leukocytes from the seven patients and four healthy relatives. "
5.	Penetrating Keratoplasty 07/01/1998 - "Two sisters, aged 33 and 35, underwent uncomplicated penetrating keratoplasty for lattice corneal dystrophy type 1. Both patients, as well as their younger brother, had experienced frequent recurrent epithelial erosions prior to undergoing corneal grafting. "