553 results match your criteria Dystrophy Lattice

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

J Clin Med 2022 May 28;11(11). Epub 2022 May 28.

Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul 03722, Korea.

Background: Mutations of the transforming growth factor-β-induced () 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 () 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. Read More

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

Ophthalmic Genet 2022 Apr 28:1-8. Epub 2022 Apr 28.

School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 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. Read More

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

Ophthalmic Genet 2022 Apr 26:1-5. Epub 2022 Apr 26.

Research Unit-Genetics Department, Institute of Ophthalmology, "Conde de Valenciana", Mexico City, Mexico.

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. Read More

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

Ophthalmic Genet 2022 Mar 22:1-4. Epub 2022 Mar 22.

Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

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). Read More

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

Auris Nasus Larynx 2022 Feb 28. Epub 2022 Feb 28.

Department of Otolaryngology, The University of Tokyo, Tokyo, Japan.

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. Read More

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February 2022

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

Eye (Lond) 2022 Feb 16. Epub 2022 Feb 16.

Department of Ophthalmology, Eye, Ear, Nose, and Throat Hospital, Shanghai Medical College, Fudan University, Shanghai, P. R. China.

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. Read More

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February 2022

[Multimodal imaging of lattice corneal dystrophy].

J Fr Ophtalmol 2022 Feb 13;45(2):249-250. Epub 2022 Jan 13.

Service d'ophtalmologie, CHU Timone, 264, Rue Saint-Pierre, 13005 Marseille, France.

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February 2022

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

J Refract Surg 2022 Jan 1;38(1):43-49. Epub 2022 Jan 1.

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. Read More

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January 2022

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

BMC Ophthalmol 2021 Dec 27;21(1):449. Epub 2021 Dec 27.

Department of Corneal and External Eye Diseases, Shenzhen Eye Hospital, Joint College of Optometry of Shenzhen University (Shenzhen University Health Science Center), Affiliated Shenzhen Eye Hospital of Jinan University, 18#, Zetian Road, Futian District, Shenzhen, 518040, P. R. China.

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. Read More

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December 2021

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

Biochim Biophys Acta Proteins Proteom 2022 03 20;1870(3):140746. Epub 2021 Dec 20.

Department of Chemistry, The Research Institute of Natural Sciences, Sookmyung Women's University, Cheongpa-ro 47-gil 100, Yongsan-gu, Seoul 04310, Republic of Korea. Electronic address:

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. Read More

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

Comput Struct Biotechnol J 2021 19;19:6355-6365. Epub 2021 Nov 19.

Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Milano, Italy.

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. Read More

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November 2021

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

Indian J Ophthalmol 2022 Jan;70(1):85-89

Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.

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. Read More

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January 2022

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

JNMA J Nepal Med Assoc 2021 Apr 30;59(236):406-408. Epub 2021 Apr 30.

Tilganga Institute of Ophthalmology, Gaushala, Nepal.

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. Read More

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Ocular Involvement in Hereditary Amyloidosis.

Genes (Basel) 2021 06 22;12(7). Epub 2021 Jun 22.

Amyloidosis Research and Treatment Centre, IRCCS Fondazione Policlinico San Matteo, 27100 Pavia, Italy.

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. Read More

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Mutation-induced dimerization of transforming growth factor-β-induced protein may drive protein aggregation in granular corneal dystrophy.

J Biol Chem 2021 07 4;297(1):100858. Epub 2021 Jun 4.

Department of Molecular Biology and Genetics, Science Park, Aarhus University, Aarhus, Denmark. Electronic address:

Protein aggregation in the outermost layers of the cornea, which can lead to cloudy vision and in severe cases blindness, is linked to mutations in the extracellular matrix protein transforming growth factor-β-induced protein (TGFBIp). Among the most frequent pathogenic mutations are R124H and R555W, both associated with granular corneal dystrophy (GCD) characterized by the early-onset formation of amorphous aggregates. The molecular mechanisms of protein aggregation in GCD are largely unknown. Read More

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

Sci Rep 2021 06 1;11(1):11503. Epub 2021 Jun 1.

Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.

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. Read More

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

Hum Mutat 2021 07 11;42(7):818-826. Epub 2021 May 11.

Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.

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

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Neurotrophic keratitis after penetrating keratoplasty for lattice dystrophy.

Am J Ophthalmol Case Rep 2021 Jun 26;22:101058. Epub 2021 Feb 26.

Storm Eye Institute, Medical University of South Carolina, Charleston, SC, USA.

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. Read More

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

Eur J Ophthalmol 2021 Mar 1:1120672121997305. Epub 2021 Mar 1.

Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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. Read More

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

Int J Mol Sci 2021 Jan 27;22(3). Epub 2021 Jan 27.

Singapore National Eye Centre, Singapore 168751, Singapore.

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. Read More

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January 2021

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

Int J Mol Sci 2021 Jan 22;22(3). Epub 2021 Jan 22.

Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.

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. Read More

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January 2021

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.

Cornea 2021 Mar;40(3):370-372

Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain.

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. Read More

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

PLoS Genet 2020 11 11;16(11):e1009179. Epub 2020 Nov 11.

Department of Neurology, University of Washington, Seattle, Washington, United States of America.

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. Read More

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November 2020

Laser refractive surgery in corneal dystrophies.

J Cataract Refract Surg 2021 May;47(5):662-670

From the Department of Ophthalmology, Hospital Clinic de Barcelona, Barcelona, Spain (Rocha-de-Lossada); Department of Ophthalmology, Regional University Hospital of Malaga, Malaga, Spain (Rachwani-Anil); Department of Ophthalmology and Optometry, Vistalaser Clinic, Malaga, Spain (Colmenero-Reina); Department of Doctoral Studies, Riga Stradins University, Riga, Latvia (Borroni); Department of Ophthalmology, Royal Liverpool University Hospital, Liverpool, United Kingdom (Borroni); Department of Physics of Condensed Matter, Optics Area. University of Seville, Seville, Spain (Sánchez-González); Department of Ophthalmology, Tecnolaser Clinic Vision, Refractive Surgery Centre, Seville, Spain (Sánchez-González).

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). Read More

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Contact lens induced bacterial keratitis in LCD II: Management and multimodal imaging: a case report and review of literature.

Eur J Ophthalmol 2021 Sep 30;31(5):2313-2318. Epub 2020 Oct 30.

Centre hospitalier national d'ophtalmologie des Quinze-Vingts, GRC32 Sorbonne Université, Paris, France.

Purpose: To describe the management and multimodal imaging of lattice corneal dystrophy type II (LCD-II) complicated by an infectious keratitis due to a bandage contact lens and to review current literature.

Observation: A 50-year-old female was diagnosed with Meretoja's Syndrome by the triad of facial palsy, loose skin (cutix laxa), and stromal corneal dystrophy. At slit lamp, bilateral lattice corneal dystrophy (LCD) was characterized by multiple linear refractile lines and subepithelial fibrosis along with Neurotrophic keratitis Mackie grade I. Read More

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September 2021

The morphogenesis of granular and lattice corneal dystrophy - A mutation combination hypothesis.

Mohammed Sabir

Med Hypotheses 2020 Dec 24;145:110291. Epub 2020 Sep 24.

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi 110023, India. Electronic address:

Mutations in the BIGH3 gene encoding for keratoepithelin protein have been described in different corneal dystrophies viz. granular corneal dystrophy, lattice corneal dystrophy, and their different clinical subtypes. Even though linked to the BIGH3 gene, the role of BIGH3 gene in the pathogenesis of corneal lattice dystrophy and corneal granular dystrophy remains to be elucidated. Read More

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December 2020

Rapid, redox-mediated mechanical susceptibility of the cortical microtubule lattice in skeletal muscle.

Redox Biol 2020 10 18;37:101730. Epub 2020 Sep 18.

Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN, USA. Electronic address:

The highly ordered cortical microtubule lattice of skeletal muscle is disorganized in dystrophin-deficient mdx mice. Implicated mechanisms include loss of dystrophin binding, altered α-tubulin posttranslational modification, expression of a β-tubulin involved in regeneration, and reactive oxygen species (ROS). Here we show that the transverse microtubules in mdx muscle expressing miniaturized dystrophins are rapidly lost after eccentric contraction. Read More

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October 2020

A pathogenic variant in the transforming growth factor beta I () in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Iran J Basic Med Sci 2020 Aug;23(8):1020-1027

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Objectives: Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.

Materials And Methods: Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was used for mutation detection. Read More

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Rare stromal corneal dystrophic diseases in Oman: A clinical and histopathological analysis for accurate diagnosis.

Oman J Ophthalmol 2020 May-Aug;13(2):70-75. Epub 2020 May 28.

Department of Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Introduction: Corneal dystrophy (CD) encirclements a heterogeneous group of genetically determined corneal diseases. Many features still remain unknown.

Aim: The purpose of this study was to highlight the clinical and the histopathological aspects of rare stromal CDs and to assess the clinical and the histopathological roles in their diagnosis. Read More

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Pharmaceutical modulation of the proteolytic profile of Transforming Growth Factor Beta induced protein (TGFBIp) offers a new avenue for treatment of -corneal dystrophy.

J Adv Res 2020 Jul 22;24:529-543. Epub 2020 May 22.

Singapore National Eye Centre, 11 Third Hospital Avenue, Singapore 168751, Singapore.

Corneal dystrophies are a group of genetically inherited disorders with mutations in the gene affecting the Bowman's membrane and the corneal stroma. The mutant TGFBIp is highly aggregation-prone and is deposited in the cornea. Depending on the type of mutation the protein deposits may vary (amyloid, amorphous powdery aggregate or a mixed form of both), making the cornea opaque and thereby decreases visual acuity. Read More

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