New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops.

Purpose: The R124C mutation of the TGFBI gene gives rise to lattice corneal dystrophy type I, which is characterized by irregularity, turbulence, and opacity of the corneal epithelium. We investigated the efficacy of corneal epithelial debridement followed by application of autologous fibronectin eye drops in the treatment of patients with this mutation.

Methods: Four patients (6 eyes; age range 25-57 years) treated between April 2006 and March 2008 were enrolled in the study.

A zygomycetes-contaminated corneal graft harvested from a donor with signs of orbital trauma.

Purpose: To report the clinical features and histopathology of a transplanted cornea that was immediately replaced because of the possible diagnosis of lattice corneal dystrophy in the graft in which histopathologic examination revealed a Zygomycetes infection.

Methods: A 19-year-old patient with keratoconus underwent deep anterior lamellar keratoplasty (DALK) in the right eye. The operation was uneventful, transplanting a corneal graft without Descemet membrane, harvested from a donor with signs of orbital trauma.

Unique TGFBI protein in lattice corneal dystrophy.

Purpose: Specific components of transforming growth factor-beta-induced protein (TGFBIp) responsible for amyloid deposits in lattice corneal dystrophy (LCD) have not been delineated. LCD has been associated with various TGFBIp mutations such as R124C, L518P, and L527R. Using recombinant TGFBIp, this study was undertaken to identify TGFBIp components potentially contributing to the protein deposits in LCD.

Chameleon-like appearance of immunotactoid keratopathy.

Purpose: To demonstrate 5 different patterns of immunotactoid keratopathy (ITK) in monoclonal gammopathy of undetermined significance (MGUS) that can mimic hereditary and degenerative disorders. First follow-up of 1 female patient was performed.

Methods: Colored slit-lamp photodocumentation of 6 MGUS light kappa patients with different types of ITK, one patient with a follow-up of 7 years.

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.

Purpose: To analyze genotype-phenotype correlation in patients originating from Polish population with the transforming growth factor beta induced (TGFBI) corneal dystrophies.

Methods: Sixty affected and 31 unaffected individuals from 15 unrelated Polish families were included in the study. The clinical diagnosis was based on the slit-lamp exam, 1310 nm time domain and 1310 nm swept source spectral domain optical coherence tomography (OCT).

Automated multiscale morphometry of muscle disease from second harmonic generation microscopy using tensor-based image processing.

Practically, all chronic diseases are characterized by tissue remodeling that alters organ and cellular function through changes to normal organ architecture. Some morphometric alterations become irreversible and account for disease progression even on cellular levels. Early diagnostics to categorize tissue alterations, as well as monitoring progression or remission of disturbed cytoarchitecture upon treatment in the same individual, are a new emerging field.

Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.

Objective: To investigate gene mutations associated with three different types of corneal dystrophies (CDs), and to establish a phenotype-genotype correlation.

Methods: Two patients with Avellino corneal dystrophy (ACD), four patients with lattice corneal dystrophy type I (LCD I) from one family, and three patients with macular corneal dystrophy type I (MCD I) were subjected to both clinical and genetic examinations. Slit lamp examination was performed for all the subjects to assess their corneal phenotypes.

A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy.

Background: To describe mutations in the transforming growth factor-beta induced (TGFBI) gene in Asian patients with Bowman's membrane as well as stromal corneal dystrophies, and to elucidate their structural implications, using model peptides.

Methods: Twenty-two unrelated Asian families were examined clinically including visual acuity testing and ocular examination with slit lamp biomicroscopy. Genomic DNA was extracted and the 17 exons of the TGFBI gene were amplified by PCR and sequenced bi-directionally.

Prevalence of corneal dystrophies in the United States: estimates from claims data.

Purpose: To estimate the prevalence of corneal dystrophies.

Methods: Records of almost 8 million enrollees in a national managed-care network throughout the United States who had an eye care visit in 2001 to 2009 were searched for a recording of corneal dystrophy on a claim submitted by an ophthalmologist or optometrist from January 1, 2001, through December 31, 2007.

Results: Unique individuals (n = 27,372) received two or more diagnoses of any type of corneal dystrophy, for an overall corneal dystrophy prevalence rate of 897 per million (10⁶) covered lives.

Cytokeratin expression in corneal dystrophies.

Purpose: To identify an immunohistochemical pattern of epithelial markers in granular, lattice and Avellino corneal dystrophies.

Methods: Twenty-two corneal buttons, diagnosed as lattice (17), Avellino (4) and granular (1) underwent immunohistochemical studies of cytokeratins (CKs) on paraffin-embedded sections (group I). Monoclonal antibodies for pan-CK (AE1/AE3) and CKs 3/12, 5/6, 8, 18 and 19 were used.

Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy.

Purpose: An atypical case of late-onset lattice corneal dystrophy is described in a 61-year-old man without a family history of eye disease. Mutational analysis of the TGFBI gene excluded any pathogenic sequence variants. However, 2 years later, renal impairment and nephrotic syndrome were diagnosed, resulting in a diagnosis of systemic heavy-chain amyloidosis.

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.

Purpose: Investigate the genotype-phenotype correlations for five TGFBI (transforming growth factor, beta-induced) mutations including one novel pathogenic variant and one complex allele affecting the fourth FAS1 domain of keratoepithelin, and their potential effects on the protein's structure.

Methods: Three unrelated families were clinically diagnosed with lattice corneal dystrophy (CD) and one with an unclassified CD of Bowman's layer. Mutations in the TGFBI gene were detected by direct sequencing, and the functional impact of each variant was predicted using in silico algorithms.

Gelsolin amyloidosis as a cause of early aging and progressive bilateral facial paralysis.

Background: Gelsolin amyloidosis, or Meretoja disease, is a dominantly inherited syndrome in which the collection of amyloid leads to early aging, bilateral progressive facial paralysis, and corneal lattice dystrophy. Characteristically, the major symptoms appear in the fifth decade of life, with brow ptosis and blepharochalasis, drooping of the facial tissues, and oral disturbances. Indications and methods, as well as the results of plastic surgical treatment, seem varied.

Stage-related therapy of corneal dystrophies.

Corneal dystrophies typically result in a gradual bilateral loss of vision in a primary 'white eye' - often in conjunction with epithelial defects in later stages. Treatment of corneal dystrophies needs to be stage-related. To ensure a stage-related therapeutic approach, an adequate classification based on clinical, histopathological and genetic knowledge is indispensable.

[Neurological manifestations of AGel amyloidosis (Meretoja's syndrome) in a German family].

AGel amyloidosis is an autosomal dominantly inherited systemic amyloidosis which is most commonly observed in Finland. The clinical manifestation is characterised by lattice corneal dystrophy, bilateral facial palsy with myokymias, and cutis laxa. We report on a German family with an AGel amyloidosis due to a gelsolin p.

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

In this paper, we report the clinical and molecular features of the distinct TGFBI (human transforming growth factor β-induced, OMIM No. 601692) gene-linked corneal dystrophy. Altogether, five pedigrees and ten unrelated individuals diagnosed as corneal dystrophy were recruited.

A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.

Aim: To report a unique transforming-growth-factor-β-induced (TGFBI) gene phenotype with Arg124Leu mutation in an Indian family.

Methods: A family with 5 affected members presented to our hospital and were clinically diagnosed as suffering from Bowman layer dystrophy after examination. Peripheral blood samples were collected in EDTA from all for genomic DNA isolation.

Destruction of amyloid fibrils of keratoepithelin peptides by laser irradiation coupled with amyloid-specific thioflavin T.

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. Removing the deposits in the cornea is important for treatment.

Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Aim: To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD, also known as GCD3).

Methods: In a five-generation Chinese family, eight members were identified with RBCD and the rest were unaffected. All members of the family underwent complete ophthalmologic examinations.

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).

Purpose: To describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean families with lattice corneal dystrophy type I (LCDI).

Methods: 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.

[Mixed corneal dystrophy].

Clinical features of Fuchs' corneal endothelial dystrophy combined with lattice dystrophy were found in an 81-year-old patient who had been treated with anti-inflammatory phosphate-rich eye drops. Histological analysis of the corneal button revealed Fuchs' corneal endothelial dystrophy, no evidence of lattice dystrophy but calcium deposits in the deep corneal stroma. This case demonstrates that calcium deposits can be incorporated in a grid-like pattern mimicking lattice dystrophy and supports the cautious use of phosphate-containing eye drops in the presence of chronic blepharoconjunctivitis and epithelial keratopathy.

Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp.

Purpose: Both granular and lattice deposits are present in Avellino corneal dystrophy (ACD), primarily associated with the R124H mutation of transforming growth factor-β-induced (TGFBIp). We investigated the presence of these deposits in other TGFBI mutations and the use of Thioflavin-T (ThT), a fluorescent amyloid stain for characterizing corneal amyloid deposits.

Methods: Surgical corneal specimens of 3 unrelated patients clinically diagnosed with ACD were studied.