581 results match your criteria Dystrophy Granular

Automatic segmentation of corneal dystrophy on photographic images based on texture analysis.

Int Ophthalmol 2021 Apr 15. Epub 2021 Apr 15.

Department of Ophthalmology, Kyung Hee University Medical Center, Kyung Hee University Hospital, Kyung Hee University, #23 Kyungheedae-ro, Dongdaemun-gu, Seoul, 130-872, Korea.

Purpose: To develop an automatic algorithm to analyze dystrophic lesions on photographic images of corneal dystrophy.

Methods: The dataset included 32 images of corneal dystrophy. The dystrophic area was manually segmented twice. Read More

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Late Onset Interface Calcium Deposition After Laser In Situ Keratomileusis.

Cornea 2021 Mar 29. Epub 2021 Mar 29.

Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA; Talley Eye Institute, Evansville, IN; and Department of Ophthalmology, Virginia Mason Medical Center, Seattle, WA.

Purpose: The purpose of this study was to report a novel clinical entity characterized by bilateral calcium deposits in the flap interface after uncomplicated laser in situ keratomileusis (LASIK).

Methods: Slit-lamp examination, anterior segment optical coherence tomography imaging, and histopathologic analysis of an interface opacity were performed to characterize and identify the origin of the interface opacities.

Results: Two unrelated healthy young men who underwent LASIK in both eyes at 20 (case 1) and 44 (case 2) years of age were diagnosed with bilateral, white anterior stromal opacities 5 years after LASIK surgery. Read More

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Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.

Sci Rep 2021 Mar 26;11(1):6986. Epub 2021 Mar 26.

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

We investigated the clinical and genetic features of patients with severe phenotype of granular corneal dystrophy type 2 (GCD2) associated with compound heterozygosity in the transforming growth factor-β-induced (TGFBI) gene. Patients with severe GCD2 underwent ophthalmic examination (best-corrected visual acuity test, intraocular pressure measurement, slit-lamp examination, and slit-lamp photograph analysis) and direct Sanger sequencing of whole-TGFBI. The patient's family was tested to determine the pedigrees. Read More

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Two Italian Patients with -Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.

Genes (Basel) 2021 Feb 26;12(3). Epub 2021 Feb 26.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. We report the first two Italian children affected with neuro-ichthyosis due to the previously undescribed homozygous frameshift variant c. Read More

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February 2021

Exacerbation of Granular Corneal Dystrophy Type 2 After Small Incision Lenticule Extraction.

Cornea 2021 Apr;40(4):519-524

*Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea; †Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea; ‡Woolfson Eye Institute, Atlanta, GA; and §Saevit Eye Hospital, Goyang-Si, Gyeonggi-Do, Korea.

Purpose: To report the outcome of unilateral small incision lenticule extraction (SMILE) in a patient with granular corneal dystrophy type 2 (GCD2).

Methods: Slit-lamp photography and Fourier domain optical coherence tomography were used to document the clinical course and appearance of the corneas in a patient with genetically determined GCD2 who underwent unilateral SMILE in the right eye.

Results: Slit-lamp examination of a 23-year-old woman revealed 2 faint opacities at the surgical interface approximately 2 months after the SMILE procedure had been performed on her right eye. 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

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.

BMC Med Genomics 2021 Jan 6;14(1). Epub 2021 Jan 6.

Ophtalmology Department, Hôpital Des Spécialités, Rabat, Morocco.

Background: Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths in the cornea. Clinical symptoms revealed bilateral multiple superficial, epithelial, and stromal anterior granular opacities in different stages of severity among three patients of this family. Read More

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January 2021

A recognition survey of granular corneal dystrophy type 2 genetic detection in China.

Int J Ophthalmol 2020 18;13(12):1976-1982. Epub 2020 Dec 18.

Department of Bioengineering and Biopharmaceutics, School of Pharmacy, Fujian Medical University, Fuzhou 350122, Fujian Province, China.

Aim: To evaluate the feasibility of promoting genetic detection for granular corneal dystrophy type 2 (GCD) by a questionnaire conducted among citizens in five cities in China.

Methods: The data were collected by questionnaire, and analyzed by Chi-square test and one-tailed test in IBM SPSS statistics.

Results: Based on the survey data on the awareness of GCD genetic detection in this study and the positive predictive analysis report of the citizens in five cities in China, the vast majority (84. Read More

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December 2020

Clinical and Onychoscopic Features of Benign and Malignant Conditions in Longitudinal Melanonychia in the Thai Population: A Comparative Analysis.

Clin Cosmet Investig Dermatol 2020 19;13:857-865. Epub 2020 Nov 19.

Division of Dermatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Background: Longitudinal melanonychia can arise from many underlying conditions, both benign and malignant. Practitioners tend to be reluctant to perform a biopsy of this condition due to procedure-related pain and the possibility of permanent nail dystrophy. Onychoscopy has become a useful tool to provide a provisional diagnosis and assist in deciding on a nail biopsy. Read More

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November 2020

Repeated phototherapeutic keratectomy (PTK) followed by PTK with photorefractive keratectomy for anterior granular corneal dystrophy.

Indian J Ophthalmol 2020 Dec;68(12):3038-3040

Department of Cornea and Cataract Services, ICARE Eye Hospital and Post Graduate Institute, Noida, Uttar Pradesh, India.

Two preteen siblings with the anterior-stromal variant of granular corneal dystrophy type 1 underwent multiple phototherapeutic keratectomies (PTK) (due to recurrences of the dystrophy) with progressively increasing hyperopia after each procedure. The last procedure performed was an additional photorefractive keratectomy along with the PTK which led to a decrease in the hyperopia with better refractive outcomes. The addition of mitomycin C may have led to a delay in the recurrence of the dystrophy. Read More

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December 2020

Clinical and morphological results of xenografts to use in myringoplasty.

Int Tinnitus J 2020 Nov 18;24(1):1-6. Epub 2020 Nov 18.

The main aim of our study was to study morphological state of the autograft from the fascia of the temporal muscle in myringoplasty. Until now, there is no consensus on issue of which fabrics are more suitable for use in the eardrum. We decided to study of use of an autograft from the fascia of the temporal muscle for myringoplasty in rabbits in the experiment, and in patients with chronic dry mesotympanitis. Read More

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November 2020

Granular corneal dystrophy recurrence at the posterior graft-host interface after type 1 big bubble deep anterior lamellar keratoplasty.

Am J Ophthalmol Case Rep 2020 Dec 15;20:100960. Epub 2020 Oct 15.

Department of Ophthalmology, Boston University School of Medicine, Boston, MA, USA.

Purpose: To describe our observations of granular corneal dystrophy (GCD) recurrence isolated to the posterior graft-host interface after type 1 big bubble (BB) deep anterior lamellar keratoplasty (DALK).

Observations: We performed a retrospective chart review of 3 eyes in 2 patients, and literature review to summarize GCD recurrence patterns after DALK. A 29-year-old man with GCD underwent DALK by type 1 BB technique. Read More

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December 2020

[Granular dystrophy: Not always easy to classify].

J Fr Ophtalmol 2020 Dec 20;43(10):e361-e363. Epub 2020 Oct 20.

Service d'ophtalmologie, CHU Bicêtre, université Paris-Saclay, 78, rue du Général-Leclerc, 94270 Le Kremlin-Bicêtre, France. Electronic address:

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December 2020

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

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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Autophagy modulation in animal models of corneal diseases: a systematic review.

Mol Cell Biochem 2020 Nov 24;474(1-2):41-55. Epub 2020 Jul 24.

Department of Microsurgery, Jesús Usón Minimally Invasive Surgery Centre, 10071, Cáceres, Spain.

Autophagy is an intracellular catabolic process implicated in the recycling and degradation of intracellular components. Few studies have defined its role in corneal pathologies. Animal models are essential for understanding autophagy regulation and identifying new treatments to modulate its effects. Read More

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November 2020

Lysosomal dysfunction of corneal fibroblasts underlies the pathogenesis of Granular Corneal Dystrophy Type 2 and can be rescued by TFEB.

J Cell Mol Med 2020 09 15;24(18):10343-10355. Epub 2020 Jul 15.

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

Granular corneal dystrophy type 2 (GCD2) is the most common form of transforming growth factor β-induced (TGFBI) gene-linked corneal dystrophy and is pathologically characterized by the corneal deposition of mutant-TGFBIp. The defective autophagic degradation of pathogenic mutant-TGFBIp has been shown in GCD2; however, its exact mechanisms are unknown. To address this, we investigated lysosomal functions using corneal fibroblasts. Read More

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September 2020

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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Protein Analysis of the TGFBI Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy.

Proteomics Clin Appl 2020 11 6;14(6):e1900072. Epub 2020 Jul 6.

Department of Molecular Biology and Genetics, Aarhus University, Aarhus, 8000, Denmark.

Purpose: Mutations in the transforming growth factor β-induced protein (TGFBIp) are associated with TGFBI-linked corneal dystrophies, which manifests as protein deposits in the cornea. A total of 70 different disease-causing mutations have been reported so far including the common R124H substitution, which is associated with granular corneal dystrophy type 2 (GCD2). The disease mechanism of GCD2 is not known and the current treatments only offer temporary relief due to the reoccurrence of deposits. Read More

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November 2020

Phototherapeutic Keratectomy in Macular and Granular Dystrophy: Two-year Results.

Semin Ophthalmol 2020 Apr 12;35(3):182-186. Epub 2020 Jun 12.

Department of Ophthalmology, University of Health Sciences, Beyoglu Eye Training and Research Hospital , Istanbul, Turkey.

Purpose: To evaluate two-year outcomes of phototherapeutic keratectomy in granular and macular dystrophy and to investigate the effects of dystrophy type on results.

Methods: Sixty-three patients who underwent phototherapeutic keratectomy (PTK) for granular and macular dystrophy in the cornea funit of the University of Health Sciences Beyoglu Eye Research and Training Hospital were evaluated retrospectively. Patients under 18 years of age, patients with a follow-up period of less than 24 months, and patients who had previously undergone corneal surgery or excimer laser treatment were excluded from the study. Read More

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Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.

Turk J Ophthalmol 2020 04;50(2):64-70

Konya Numune Hospital, Clinic of Ophtalmology, Konya, Turkey.

Objectives: Granular corneal dystrophies (GCD) are characterized by small, discrete, sharp-edged, grayish-white opacities in the corneal stroma. Among the genes responsible for the development of GCD, the most strongly related gene is transforming growth factor beta-induced (), located in the 5q31.1 locus. Read More

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Involvement of the JNK signaling in granular corneal dystrophy by modulating TGF-β-induced TGFBI expression and corneal fibroblast apoptosis.

In Vitro Cell Dev Biol Anim 2020 Mar 18;56(3):234-242. Epub 2020 Mar 18.

Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen University School of Medicine, No. 18, Zetian Road, Futian District, Shenzhen, 518040, China.

Granular corneal dystrophy (GCD) is featured by corneal deposits of transforming growth factor beta-induced gene (TGFBI) mediated by the TGF-β (transforming growth factor-β)/Smad signaling. However, the roles of c-Jun amino-terminal kinase (JNK) pathway in GCD pathogenesis remains unexplored, which was investigated in this study. JNK signaling activation and inhibition in primary corneal fibroblasts were obtained by treatments with anisomycin and SP600125, respectively. Read More

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Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies.

Prog Retin Eye Res 2020 07 29;77:100843. Epub 2020 Jan 29.

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

Transforming growth factor-β-induced protein (TGFBIp), an extracellular matrix protein, is the second most abundant protein in the corneal stroma. In this review, we summarize the current knowledge concerning the expression, molecular structure, binding partners, and functions of human TGFBIp. To date, 74 mutations in the transforming growth factor-β-induced gene (TGFBI) are associated with amyloid and amorphous protein deposition in TGFBI-linked corneal dystrophies. Read More

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Early ultra- and microstructural alterations in rat pancreas in alloxan-induced diabetes mellitus.

Ultrastruct Pathol 2020 Jan 31;44(1):61-70. Epub 2019 Dec 31.

Pathology Department, North-Western State Medical University named after I.I. Mechnikov, Saint-Petersburgh, Russian Federation.

An adequate experimental model is important to understand pathophysiological processes ongoing in the pancreas with diabetes mellitus. Our study was aimed to describe early ultra- and microstructural changes in the rat pancreas in 12-48 h after alloxan administration in a dose of 180 mg/kg. A histopathological examination of the endocrine pancreas revealed the loss of borders between endocrine cells, granular dystrophy and degranulation, sings of necrosis in central cells of the Langerhans islets and apoptosis of their peripheral ones manifested as DNA fragmentation and an increased expression of apoptosis markers. Read More

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January 2020

Systematic review of differential methylation in rare ophthalmic diseases.

BMJ Open Ophthalmol 2019 13;4(1):e000342. Epub 2019 Nov 13.

Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK.

Rare ophthalmic diseases have a devastating impact on a patient's vision and consequently negatively affect their independence, ability to work and overall quality of life. Methylation is an important emerging biomarker of disease and may improve understanding of rare ophthalmic disorders. This systematic review sought to identify and evaluate literature on methylation and rare ophthalmic disease. Read More

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November 2019

Effect of naked and PEG-coated gold nanoparticles on histopathology and cytokines expression in rat liver and kidneys.

Nanomedicine (Lond) 2020 02 27;15(3):289-302. Epub 2019 Nov 27.

Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.

To compare the effects of 5- and 50-nm naked and PEG-coated gold nanoparticles (AuNP) on proinflammatory cytokines (IL-1β, IL-6, TNF-α) expression and histopathological changes in liver and kidneys of rats. Rats were injected with different nanoparticles and sacrificed after 24 h. Both 5- and 50-nm AuNPs, and 50-nm PEG-AuNPs caused granular clumping of cytoplasm, edema and hydropic dystrophy in hepatic cells. Read More

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February 2020

Distinct ocular surface soluble factor profile in human corneal dystrophies.

Ocul Surf 2020 04 19;18(2):237-248. Epub 2019 Nov 19.

GROW Research Laboratory, Narayana Nethralaya Foundation, Bengaluru, India. Electronic address:

Purpose: Corneal dystrophies (CD) are classified as rare eye diseases that results in visual impairment and requires corneal transplant in advanced stages. Ocular surface inflammatory status in different types of CD remains underexplored. Hence, we studied the levels of tear soluble factors in the tears of patients with various types of corneal dystrophies. Read More

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