Corneal irregularity and visual function using anterior segment optical coherence tomography in TGFBI corneal dystrophy.

The purpose of this study was to evaluate corneal irregular astigmatism of patients with granular and lattice corneal dystrophy (GCD and LCD). 70 GCD, 35 LCD, and 81 control eyes were included. Anterior and posterior corneal topographic data obtained from anterior segment optical coherence tomography were expanded into four components via Fourier harmonic analysis.

De Novo L509P Mutation of the Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA.

Background: Mutations of the transforming growth factor-β-induced (TGFBI) gene produce various types of corneal dystrophy. Here, we report a novel de novo L509P mutation not located in a known hot spot of the transforming growth factor-β-induced (TGFBI) gene and its clinical phenotype, which resembles that of lattice corneal dystrophy type IIIA (LCD IIIA). Case presentation: A 36-year-old man (proband) visited our clinic due to decreased visual acuity with intermittent ocular irritation in conjunction with painful recurrent erosions in both eyes for 10 years.

Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China.

Background: To delineate the mutations of the TGFBI gene in Eastern China by whole-exome sequencing (WES) in eight Chinese families with lattice corneal dystrophy (LCD).

Materials And Methods: This retrospective study included eight families with LCD from Eastern China. Clinical features were examined using slit-lamp examination, anterior segment optical coherence tomography, and in vivo confocal microscopy.

Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.

Purpose: The purpose of this study is to describe the corneal clinical spectrum and the intrafamilial phenotypic differences in an extended pedigree suffering from stromal corneal dystrophy due to the rare p.Ala546Asp mutation in TGFBI.

Methods: A total of 15 members from a four-generation Mexican family were ascertained for clinical and genetic assessment.

Confirmation of association of p.Ser591Phe mutation with variant lattice corneal dystrophy.

Purpose: To provide the initial confirmation of the c.1772C>T (p.Ser591Phe) mutation in the transforming growth factor--induced ( gene as being associated with variant lattice corneal dystrophy (LCD).

Clinical and electrophysiological findings of facial palsy in a case of hereditary gelsolin amyloidosis.

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant systemic amyloidosis, characterized by cranial and sensory peripheral neuropathy, corneal lattice dystrophy, and cutis laxa. We report a case of HGA presenting with bilateral facial palsy. A 70-year-old Japanese man presented with slowly progressive bilateral facial palsy and facial twitching, which had started in his 40s.

The alterations of corneal biomechanics in adult patients with corneal dystrophy.

Purpose: To evaluate the changes of corneal biomechanics in granular, lattice and macular corneal dystrophy (GCD, LCD and MCD), and to assess the agreement of intraocular pressure (IOP) between Corvis ST tonometer (CST) and Goldmann applanation tonometer (GAT) and the agreement of central corneal thickness (CCT) between CST and ultrasound pachymeter (USP) in patients with corneal dystrophy.

Methods: Fifty-nine eyes with corneal dystrophy (26 eyes with GCD, 18 eyes with LCD and 15 eyes with MCD) and 48 eyes from healthy subjects were included in this study. All subjects received ocular examination and anterior segment photography under slit-lamp microscope.

Recurrence and Visual Outcomes of Phototherapeutic Keratectomy in Lattice Corneal Dystrophy: A Cohort Study.

Purpose: To evaluate recurrence and visual outcomes of phototherapeutic keratectomy (PTK) in lattice corneal dystrophy.

Methods: Kaplan-Meier survival analyses were retrospectively performed. Recurrence was defined as central biomicroscopic findings of recurrence with decreased visual acuity: loss of at least two lines or visual acuity ≤ 20/40) at any time during the follow-up.

In vivo confocal microscopy qualitative investigation of the relationships between lattice corneal dystrophy deposition and corneal nerves.

Background: To investigate the corneal neurotropic phenomenon in patients with lattice corneal dystrophy (LCD) with in vivo laser scanning confocal microscopy (IVCM).

Methods: IVCM was performed on a total of 15 patients (28 eyes) with LCD annually at a follow-up. A collection of the data was acquired to be analyzed.

Mutation effects on FAS1 domain 4 based on structure and solubility.

Mutations in the fasciclin 1 domain 4 (FAS1-4) of transforming growth factor β-induced protein (TGFBIp) are associated with insoluble extracellular deposits and corneal dystrophies (CDs). The decrease in solubility upon mutation has been implicated in CD; however, the exact molecular mechanisms are not well understood. Here, we performed molecular dynamics simulations followed by solvation thermodynamic analyses of the FAS1-4 domain and its three mutants-R555W, R555Q, and A546T-linked to granular corneal dystrophy type 1, Thiel-Behnke corneal dystrophy and lattice corneal dystrophy, respectively.

A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation.

Gelsolin comprises six homologous domains, named G1 to G6. Single point substitutions in this protein are responsible for AGel amyloidosis, a hereditary disease causing progressive corneal lattice dystrophy, cutis laxa, and polyneuropathy. Although several different amyloidogenic variants of gelsolin have been identified, only the most common mutants present in the G2 domain have been thoroughly characterized, leading to clarification of the functional mechanism.

An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.

Purpose: To identify a clinical and genetic form of a large Chinese family with an autosomal-dominant lattice corneal dystrophy type I (LCD I).

Methods: The patients' eyes were examined on the basis of slit-lamp microscopy, and other clinical records were also collected. Genomic DNA was extracted from peripheral leukocytes of the affected patients and their unaffected family members.

Recurrence of Avellino Corneal Dystrophy Following Penetrating Keratoplasty: A Case Report.

Granular - lattice (Avellino) corneal dystrophy is inherited in an autosomal dominant fashion which affects stroma of the cornea with recurrent erosions and decreased vision due to clouding of cornea in later stage. We reported a case of 53-year old woman presented with pain and blurring of vision of left eye for 10 days with history of right eye deep anterior lamellar dystrophy and Left eye penetrating keratoplasty 5years back for Avellino dystrophy. On examination right eye graft was clear and left eye showed circular edges of irregular epithelium with patchy stains and epithelial defect suggestive of recurrence of dystrophy.

Ocular Involvement in Hereditary Amyloidosis.

The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar aggregates. So far, 36 amyloid precursor proteins have been identified, and each one is responsible for a specific disease entity. Transthyretin amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, due to the deposition of transthyretin (TTR), which is a transport protein mainly synthesized in the liver but also in the retinal pigment epithelial cells.

Surgical outcomes of re-excimer laser phototherapeutic keratectomy (re-PTK).

To assess the surgical outcomes of re-excimer laser phototherapeutic keratectomy (re-PTK) for recurrent disease after initial PTK. Retrospective cohort study with historical comparison group. This study involved 56 patients who underwent re-PTK (mean follow-up period: 47.

A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.

Gelsolin (GSN) variants have been implicated in amyloidosis of the Finnish type. This case series reports a novel GSN:c.1477T>C,p.

Neurotrophic keratitis after penetrating keratoplasty for lattice dystrophy.

Purpose: To report clinical outcomes of a patient with unilateral neurotrophic keratitis following penetrating keratoplasty for lattice dystrophy treated with topical recombinant human nerve growth factor.

Observations: A 75-year-old male with lattice dystrophy and history of herpes simplex keratitis, presented with recurrent neurotrophic ulceration in the right eye two years following penetrating keratoplasty. The patient was successfully treated with topical recombinant human nerve growth factor.

A novel missense variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy.

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced gene.

Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.

To evaluate the distribution of the transforming growth factor-beta induced (TGFBI) corneal dystrophies in a multi-ethnic population in Singapore, and to present the different phenotypes with the same genotype. This study included 32 patients. Slit lamp biomicroscopy was performed for each patient to determine the disease phenotype.

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel Variant p.Glu580Lys.

Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel variant p.

Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.

Purpose: This study aims to clinically and genetically report a case of coexisting Meesmann corneal dystrophy (MECD) and pseudo-unilateral lattice corneal dystrophy (LCD).

Methods: Clinical characterization was supported by a complete ophthalmological evaluation, including visual acuity measurement and slit-lamp examination. Molecular diagnosis was performed by whole-exome sequencing analyzing the gelsolin, keratin K3 (KRT3), keratin K12, and transforming growth factor-beta-induced genes.

Microutrophin expression in dystrophic mice displays myofiber type differences in therapeutic effects.

Gene therapy approaches for DMD using recombinant adeno-associated viral (rAAV) vectors to deliver miniaturized (or micro) dystrophin genes to striated muscles have shown significant progress. However, concerns remain about the potential for immune responses against dystrophin in some patients. Utrophin, a developmental paralogue of dystrophin, may provide a viable treatment option.

Laser refractive surgery in corneal dystrophies.

Twenty-eight case reports and case series published between 2000 and 2019 concerning laser refractive surgery in patients with corneal dystrophies, resulting in 173 eyes from 94 patients, were included in this systematic review. Best results were achieved in posterior corneal polymorphous and Cogan dystrophy. Unfavorable results were found in Avellino dystrophy and Fuchs endothelial corneal dystrophy (FECD).