606 results match your criteria Dystrophy Granular

Blue-light fundus autofluorescence imaging of pigment epithelial detachments.

Eye (Lond) 2022 May 17. Epub 2022 May 17.

Department of Ophthalmology, University of Bonn, Bonn, Germany.

Background: Pigment epithelial detachments (PEDs) occur in association with various chorioretinal diseases. With respect to the broad clinical spectrum of PEDs we describe fundus autofluorescence (FAF) characteristics of PEDs.

Methods: Ninety-three eyes of 66 patients (mean age 71. Read More

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Phototherapeutic keratectomy: current approaches and changing trends in a tertiary eye clinic.

Arq Bras Oftalmol 2022 May 9. Epub 2022 May 9.

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

Purpose: To examine the efficacy of phototherapeutic keratectomy as a treatment for variable pathologies with anterior corneal opacities and evaluate the distribution of phototherapeutic keratectomy indications over the past 10 years.

Methods: The records of 334 eyes from 276 patients who underwent phototherapeutic keratectomy between March 2010 and 2020 were retrospectively reviewed. Etiologies of the patients who underwent phototherapeutic keratectomy were noted, and their changes were examined. Read More

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Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.

Invest Ophthalmol Vis Sci 2022 04;63(4):25

Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.

Purpose: Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod-cone dystrophy (RCD). Retinal findings in Usher syndrome 3A have not been well defined. We report the detailed phenotypic description of RCD associated with CLRN1 variants in a prospective cohort. 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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Hyperopia-Correcting Phototherapeutic Keratectomy and Its Comparison With Conventional Phototherapeutic Keratectomy.

Front Med (Lausanne) 2022 10;9:708188. Epub 2022 Mar 10.

Department of Ophthalmology, Kitasato University, School of Medicine, Sagamihara, Japan.

Purpose: To evaluate hyperopia-correcting phototherapeutic keratectomy (HC-PTK) and to compare the visual and refractive outcomes of HC-PTK and conventional PTK.

Methods: This study comprised a total of 72 eyes of 72 consecutive patients who underwent HC-PTK and conventional PTK for granular corneal dystrophy or band-shaped keratopathy. Preoperatively and 6 months postoperatively, we assessed visual acuity, manifest refraction, and mean keratometry, as well as postoperative corneal higher-order aberrations and adverse events in each PTK group, and compared these metrics between the two groups. Read More

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Posterior chamber implantation of a Preserflo Microshunt in a patient with a compromised endothelium.

Arch Soc Esp Oftalmol (Engl Ed) 2022 Mar 23;97(3):161-164. Epub 2022 Feb 23.

Departamento de Inmunología, Oftalmología y ORL, Hospital Clínico San Carlos, Universidad Complutense de Madrid, Instituto de Investigación Sanitaria del Hospital Clínico San-Carlos (IdISSC), Madrid, Spain.

The objective of the present case is to describe a variation in the Preserflo Microshunt surgical technique, placing it in the posterior chamber to minimise the risk of endothelial cell loss in cases with a compromised endothelium. The patient was a 72-year-old pseudophakic woman, with granular dystrophy and a primary diagnosis of open-angle glaucoma presenting with a progressive visual field defect and an IOP of 26 mmHg with maximal medical therapy. The cornea had incipient stromal folds with an endothelial count of 700 cells/mm. Read More

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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

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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Effect of Platelet-Rich Plasma on Corneal Epithelial Healing after Phototherapeutic Keratectomy: An Intraindividual Contralateral Randomized Study.

Biomed Res Int 2021 27;2021:5752248. Epub 2021 Nov 27.

Department of Ophthalmology, School of Medicine, Kitasato University, Kanagawa, Japan.

Purpose: To assess the effect of platelet-rich plasma (PRP) on the healing response of the corneal epithelium in eyes undergoing phototherapeutic keratectomy (PTK).

Methods: We prospectively examined 20 eyes of 10 patients undergoing bilateral PTK for granular corneal dystrophy or band keratopathy. Patients were randomly assigned to start topical administration of PRP ophthalmic suspension (PRP group) or artificial tears (control group) 4 times daily for 2 weeks. Read More

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January 2022

Effect of lens status and age on ultra-wide-field fundus autofluorescence in eyes with granular corneal dystrophy.

Clin Exp Ophthalmol 2022 01 2;50(1):110-112. Epub 2021 Nov 2.

Department of Ophthalmology, Korea Universiy Ansan Hospital, Ansan, Republic of Korea.

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January 2022

Long-Term Observation of Deep Anterior Lamellar Keratoplasty in Patients with Post-LASIK Granular Corneal Dystrophy Type 2: Two Case Reports.

Ophthalmol Ther 2021 Dec 2;10(4):1163-1169. Epub 2021 Oct 2.

Department of Ophthalmology and Visual Science, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.

Introduction: Laser-assisted in situ keratomileusis (LASIK) exacerbates granular corneal dystrophy type 2. Post-LASIK granular corneal dystrophy type 2 is treated by several surgical techniques. To the best of our knowledge, no report has addressed the results of deep anterior lamellar keratoplasty in affected patients. Read More

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December 2021

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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Automatic segmentation of corneal deposits from corneal stromal dystrophy images via deep learning.

Comput Biol Med 2021 10 27;137:104675. Epub 2021 Jul 27.

Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea; Saevit Eye Hospital, Goyang-Si, Gyeonggi-Do, South Korea. Electronic address:

Background: Granular dystrophy is the most common stromal dystrophy. To perform automated segmentation of corneal stromal deposits, we trained and tested a deep learning (DL) algorithm from patients with corneal stromal dystrophy and compared its performance with human segmentation.

Methods: In this retrospective cross-sectional study, we included slit-lamp photographs by sclerotic scatter from patients with corneal stromal dystrophy and real-world slit-lamp photographs via various techniques (diffuse illumination, tangential illumination, and sclerotic scatter). Read More

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October 2021

Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in (p.G623_H626del)-linked Thiel-Behnke corneal dystrophy.

Autophagy 2022 04 17;18(4):765-782. Epub 2021 Aug 17.

Department of Ophthalmology, The First Affiliated Hospital of Harbin Medical University, Harbin, China.

Thiel-Behnke corneal dystrophy (TBCD) is an epithelial-stromal dystrophy caused by mutations in the (transforming growth factor beta induced) gene, though the underlying mechanisms and pathogenesis of TBCD are still obscure. The study identifies a novel mutation in the gene (p.Gly623_His626del) in a TBCD pedigree. Read More

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Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene.

Int Med Case Rep J 2021 6;14:459-463. Epub 2021 Jul 6.

Department of Surgery, University of Puerto Rico School of Medicine, University of Puerto Rico, San Juan, PR, US.

Purpose: To report retinitis pigmentosa and a history of polydactyly in a Bardet-Biedl syndrome mutation carrier.

Observations: A 25-year-old male presented to the clinic complaining of poor visual acuity since childhood, night-blindness, and progressive peripheral vision loss. The patient also had a history of polydactyly in both feet. Read More

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Stage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography.

Sci Rep 2021 07 12;11(1):14300. Epub 2021 Jul 12.

Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, 635 West 165th Street, Box 212, New York, NY, 10032, USA.

Characterization of vascular impairment in Best vitelliform macular dystrophy (BVMD) is essential for the development of treatment modalities and therapy trials. As such, we seek to characterize the choriocapillaris (CC) at each stage of the disease process in 22 patients (44 eyes) with a diagnosis of BVMD confirmed by genetic sequencing. We utilize optical coherence tomography angiography (OCTA) images to characterize the CC and correlate our findings to the status of the retinal pigment epithelium (RPE) as observed on short-wavelength fundus autofluorescence (SW-AF) images. Read More

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Spectrum of AS-OCT features of ocular surface tumors and correlation of clinico-tomographic features with histopathology: a study of 70 lesions.

Int Ophthalmol 2021 Nov 9;41(11):3571-3586. Epub 2021 Jul 9.

Operation Eyesight Universal Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, 500034, India.

Purpose: To assess the correlation between clinical and anterior segment optical coherence tomographic (AS-OCT) details and histopathological changes in various ocular surface lesions.

Methods: Prospective case series of 70 lesions in 65 patients.

Results: AS-OCT revealed epithelial changes in OSSN (n = 19; 44%), squamous papilloma (n = 3; 60%), nevus (n = 1; 33%), epithelial hyperplasia (n = 1; 33%), granular dystrophy (n = 1; 100%) and granulation tissue (n = 1; 100%); subepithelial changes in chronic inflammation (n = 4, 100%), lymphoma (n = 3; 100%) and arteriovenous malformation (n = 1; 100%); combined epithelial and subepithelial changes in OSSN (n = 24; 56%), squamous papilloma (n = 2; 40%), PEH (n = 3; 100%), nevus (n = 2; 67%), epithelial hyperplasia (n = 2; 67%), solar elastosis (n = 1; 100%), lobular capillary hemangioma (n = 1; 100%) and sebaceous carcinoma (n = 1; 100%). Read More

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November 2021

Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK.

Int J Ophthalmol 2021 18;14(6):795-799. Epub 2021 Jun 18.

Eye Hospital, the First Affiliated Hospital of Harbin Medical University, Harbin 150001, Heilongjiang Province, China.

Aim: To reveal the importance of gene screening for candidates with a family history of corneal disease or granular opacities in corneal stroma before refractive surgery.

Methods: A 37-year-old male (proband) underwent bilateral laser-assisted keratomileusis (LASIK) in 2002, with right vision decreased significantly in 2006. The proband and other 32 members of the family underwent a detailed ophthalmic examination, including vision acuity, intraocular pressure, slit-lamp photograph, fundus examination, optical coherence tomography (OCT) of cornea, and confocal microscope (IVCM) and peripheral blood was used for genomic DNA extraction. Read More

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Ultrastructural Alterations of Grafted Corneal Buttons: The Anatomic Basis for Stromal Peeling Along a Natural Plane of Separation.

Am J Ophthalmol 2021 11 10;231:144-153. Epub 2021 Jun 10.

University of Ferrara, Department of Translational Medicine, Ferrara, Italy; Ospedali Privati Forlì "Villa Igea", Department of Ophthalmology, Forlì, Italy; Istituto Internazionale per la Ricerca e Formazione in Oftalmologia (IRFO), Forlì, Italy.

Purpose: To examine the ultrastructure of the natural plane of separation in grafted corneas and evaluate the outcomes of stromal peeling.

Design: Interventional case series.

Methods: In this multicenter study, stromal peeling was attempted in 96 consecutive eyes with unsatisfactory vision following penetrating keratoplasty (PK) for keratoconus (n = 79), herpetic keratitis (n = 11), and granular dystrophy (n = 6). Read More

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November 2021

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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Prevalence of granular corneal dystrophy type 2-related p.R124H variant in a South Korean population.

Mol Vis 2021 8;27:283-287. Epub 2021 May 8.

GC Genome, Yongin, Korea.

Purpose: Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disorder and is associated with the arginine to histidine substitution at codon 124 (p.R124H) of the gene. Although p. Read More

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December 2021

Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.

Mol Vis 2021 7;27:221-232. Epub 2021 May 7.

Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Purpose: To evaluate the retinal phenotype and genetic features of Chinese patients with spinocerebellar ataxia type 7 (SCA7).

Methods: Detailed ophthalmic examinations, including electroretinograms, fundus photography, fundus autofluorescence and optical coherence tomography, were performed to analyse the retinal lesions of patients with SCA7. A molecular genetic analysis was completed to confirm the number of CAG repeats in gene on the patients and their family members. Read More

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December 2021

Clinical outcomes of simultaneous phototherapeutic keratectomy and photoastigmatic keratectomy.

Sci Rep 2021 05 4;11(1):9504. Epub 2021 May 4.

Department of Ophthalmology, School of Medicine, Kitasato University, Sagamihara, Japan.

This study was aimed to assess the outcomes of simultaneous phototherapeutic keratectomy (PTK) and photoastigmatic keratectomy (PAK), with special attention to astigmatic correction. We comprised 70 eyes of 70 patients who underwent simultaneous PTK and PAK in patients having granular corneal dystrophy and band keratopathy with refractive astigmatism of 1 diopter (D) or more. Preoperatively and 6 months postoperatively, we assessed corrected uncorrected distance visual acuity (UDVA), distance visual acuity (CDVA), manifest spherical equivalent, refractive astigmatism, corneal astigmatism, and higher-order aberrations (HOAs). Read More

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

Int Ophthalmol 2021 Aug 15;41(8):2695-2703. 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 2022 Jan;41(1):116-120

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

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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January 2022

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

Sci Rep 2021 03 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 02 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