Corneal Dystrophies

2022 ◽  
pp. 322-340
Keyword(s):  
Late Onset ◽  
Corneal Thickness ◽  
Corneal Dystrophy ◽  
International Committee ◽  
Level Of Evidence ◽  
Corneal Dystrophies ◽  
Tgfbi Gene ◽  
Epithelial Basement Membrane ◽  
Posterior Polymorphous Corneal Dystrophy

Corneal dystrophies have classically referred to inherited, bilateral disease without systemic findings, although there are several exceptions to this definition. Hereditary pattern is not present in most patients with epithelial basement membrane dystrophy (EBMD). Unilateral corneal changes may be found in some patients with posterior polymorphous corneal dystrophy (PPCD). TGFBI gene mutation (p.His572del) is associated with a unilateral, late-onset variant of lattice corneal dystrophy. Among all dystrophies, macular corneal dystrophy and posterior amorphous corneal dystrophy are associated with decreased corneal thickness. The International Committee for Classification of Corneal Dystrophies (IC3D) was created in 2005 to revise the corneal dystrophy nomenclature and create a current and accurate corneal dystrophy classification system. Evidential categories were created in the IC3D classification for reflecting the natural evolution of a corneal dystrophy and indicate the level of evidence supporting the existence of a given dystrophy.

Corneal Dystrophy in Dutch Belted Rabbits as a Possible Model of Thiel-Behnke Subtype of Epithelial-Stromal TGFβ-Induced Corneal Dystrophy

2020 ◽  
pp. 019262332096809
Author(s):  
JoAnn C. L. Schuh ◽  
Dana L. Holve ◽  
Karen E. Mundwiler
Keyword(s):  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Corneal Opacity ◽  
Corneal Dystrophy ◽  
International Committee ◽  
Corneal Dystrophies ◽  
Transmission Electron ◽  
Oct Imaging ◽  
Small Clusters

The International Committee for Classification of Corneal Dystrophies (IC3D) categorized corneal dystrophies in humans using anatomic, genotypic, and clinicopathologic phenotypic features. Relative to the IC3D classification, a review of the veterinary literature confirmed that corneal dystrophy is imprecisely applied to any corneal opacity and to multiple poorly characterized histologic abnormalities of the cornea in animals. True corneal dystrophy occurs in mice with targeted mutations and spontaneously in pet dogs and cats and in Dutch belted (DB) rabbits, but these instances lack complete phenotyping or genotyping. Corneal dystrophy in DB rabbits can be an important confounding finding in ocular toxicology studies but has only been described once. Therefore, the ophthalmology and pathology of corneal dystrophy in 13 DB rabbits were characterized to determine whether the findings were consistent with or a possible model of any corneal dystrophy subtypes in humans. Slit lamp and optical coherence tomography (OCT) imaging were used to characterize corneal dystrophy over 4 months in young DB rabbits. The hyperechoic OCT changes correlated with light microscopic findings in the anterior stroma, consisting of highly disordered collagen fibers and enlarged keratocytes. Histochemical stains did not reveal abnormal deposits. Small clusters of 8 to 16 nm diameter curly fibers identified by transmission electron microscopy were consistent with Thiel-Behnke (TBCD) subtype of epithelial-stromal transforming growth factor β-induced dystrophies. Sporadic corneal dystrophy in DB rabbits appears to be a potential animal model of TBCD, but genotypic characterization will be required to confirm this categorization.

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

2021 ◽  
pp. 112067212199730
Author(s):  
Aino Maaria Jaakkola ◽  
Petri J Järventausta ◽  
Reetta-Stiina Järvinen ◽  
Pauliina Repo ◽  
Tero T Kivelä ◽  
...  
Keyword(s):  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Late Onset ◽  
Family Members ◽  
Anterior Segment ◽  
Corneal Dystrophy ◽  
Ophthalmological Examination ◽  
Lattice Corneal Dystrophy ◽  
Tgfbi Gene ◽  
Novel Variant

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 (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.

Late-Onset Lattice Corneal Dystrophy Without Typical Lattice Lines Caused by a Novel Mutation in the TGFBI Gene

Cornea ◽  
2014 ◽  
Vol 33 (3) ◽  
pp. 294-299 ◽  
Author(s):  
Monika Ołdak ◽  
Jacek P. Szaflik ◽  
Aneta Ścieżyńska ◽  
Monika Udziela ◽  
Radosław B. Maksym ◽  
...  
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Tgfbi Gene

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

2021 ◽  
Vol 22 (3) ◽  
pp. 1230
Author(s):  
Sang Beom Han ◽  
Venkatraman Anandalakshmi ◽  
Chee Wai Wong ◽  
Si Rui Ng ◽  
Jodhbir S. Mehta
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Corneal Dystrophy ◽  
Ethnic Population ◽  
Corneal Dystrophies ◽  
Tgfbi Gene ◽  
Growth Factor Beta ◽  
Granular Corneal Dystrophy

Background: 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. Methods: This study included 32 patients. Slit lamp biomicroscopy was performed for each patient to determine the disease phenotype. Genomic DNA was extracted from the blood samples and the 17 exons of the TGFBI gene were amplified by PCR and sequenced bi-directionally for genotype analysis. Results: Regarding phenotypes, the study patients comprised 11 (34.4%; 8 with R555W and 3 with R124H mutation) patients with granular corneal dystrophy type 1 (GCD1), 6 (18.8%; 5 with R124H and 1 with R124C mutation) patients with GCD2, 13 (40.6%; 7 with R124C, 2 with H626R, 2 with L550P, 1 with A620D and 1 with H572R) patients with lattice corneal dystrophy (LCD) and 2 (6.3%; 1 with R124L and 1 with R124C) patients with Reis–Bückler corneal dystrophy. Regarding genotype, R124H mutation was associated with GCD2 (5 cases; 62.5%) and GCD1 (3 cases; 37.5%). R124C mutation was associated with LCD (7 cases; 87.5%) and GCD2 (1 case; 12.5%). All the 8 cases (100%) of R555W mutation were associated with GCD1. Conclusions: Although the association between genotype and phenotype was good in most cases (65.7%; 21 of 32 patients), genotype/phenotype discrepancy was observed in a significant number.

scholarly journals Classification of Posterior Polymorphous Corneal Dystrophy as a Corneal Ectatic Disorder Following Confirmation of Associated Significant Corneal Steepening

2013 ◽  
Vol 131 (12) ◽  
pp. 1583 ◽  
Author(s):  
Anthony J. Aldave ◽  
Lydia B. Ann ◽  
Ricardo F. Frausto ◽  
Catherine K. Nguyen ◽  
Fei Yu ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Posterior Polymorphous Corneal Dystrophy

scholarly journals Corneal Dystrophy Adds to the Frustration of a Dry Eye Patient

2017 ◽  
Vol 79 (4) ◽  
pp. 9-16
Author(s):  
Michelle Zakem ◽  
Etty Bitton
Keyword(s):  
Dry Eye ◽  
Anterior Segment ◽  
Corneal Dystrophy ◽  
Meibomian Gland ◽  
Poor Vision ◽  
Corneal Dystrophies ◽  
Epithelial Basement Membrane ◽  
Ocular Discomfort ◽  
Upper Lid ◽  
Preservative Free

PURPOSEThis case report highlights how epithelial basement membrane dystrophy (EBMD), coupled with dry eye, can contribute to symptoms of unstable vi-sion and discomfort. This report also reviews corneal dystrophies and offers eye care practitioners (ECPs) clinical pearls for identifying key features. CASE REPORTA 62-year-old Caucasian female presented for a dry eye evaluation due to fluctuating vision and longstanding ocular discomfort, despite ocular lubri-cation. Anterior segment examination revealed Meibomian gland dysfunc-tion (MGD), upper lid margin staining (ULMS) and anterior blepharitis. The patient was unaware of a pre-existing EBMD and this lack of knowl-edge contributed to her frustration concerning her unstable vision, which she had solely attributed to her glasses. Management included warm com-presses for MGD and targeted preservative-free artificial tears for ULMS and EBMD. Photographs were essential for educating the patient with respect to the irregularities of the ocular surface and its effect on vision. This provided a deeper understanding of the multifactorial nature of her symptoms.CONCLUSIONUnstable and/or poor vision is among the main reasons why patients con-sult ECPs and it can be difficult to identify contributory factors. This report highlights that additional chair time may be warranted to educate patients on the multifactorial nature of dry eye and the complexities of corneal dys-trophy.

Anterior Corneal Dystrophy of American Dutch Belted Rabbits: Biomicroscopic and Histopathologic Findings

1987 ◽  
Vol 24 (1) ◽  
pp. 28-33 ◽  
Author(s):  
C. P. Moore ◽  
R. Dubielzig ◽  
S. M. Glaza
Keyword(s):  
Basement Membrane ◽  
Corneal Stroma ◽  
Corneal Dystrophy ◽  
Surface Epithelium ◽  
Slit Lamp ◽  
Corneal Dystrophies ◽  
Epithelial Basement Membrane ◽  
Corneal Opacities ◽  
Histopathologic Findings ◽  
Epithelial Basement

Spontaneously occurring anterior corneal opacities were present in related, juvenile American Dutch belted rabbits. Slit lamp biomicroscopy revealed focal opacities of epithelium, basement membrane, and subepithelial corneal stroma. Lesions were characterized histologically by thin and disorganized surface epithelium, thickened and intensely staining epithelial basement membrane, fimbriated and irregular basement membrane-stromal juncture, and disorganized subepithelial stroma. Biomicroscopic and histopathologic features of anterior corneal dystrophy of American Dutch belted rabbits appear similar to those of human anterior corneal dystrophies.

scholarly journals Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Anna K. Nowinska ◽  
Sławomir J. Teper ◽  
Dominika A. Janiszewska ◽  
Anita Lyssek-Boron ◽  
Dariusz Dobrowolski ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Corneal Thickness ◽  
Anterior Chamber Depth ◽  
Optical Coherence ◽  
Swept Source ◽  
Corneal Dystrophies ◽  
Epithelial Basement Membrane ◽  
Normal Individuals ◽  
Anterior Eye Segment

Purpose.To compare anterior eye segment measurements and morphology obtained with two optical coherence tomography systems (TD OCT, SS OCT) in eyes with corneal dystrophies (CDs).Methods. Fifty healthy volunteers (50 eyes) and 54 patients (96 eyes) diagnosed with CD (epithelial basement membrane dystrophy, EBMD = 12 eyes; Thiel-Behnke CD = 6 eyes; lattice CD TGFBI type = 15 eyes; granular CD type 1 = 7 eyes, granular CD type 2 = 2 eyes; macular CD = 23 eyes; and Fuchs endothelial CD = 31 eyes) were recruited for the study. Automated and manual central corneal thickness (aCCT, mCCT), anterior chamber depth (ACD), and nasal and temporal trabecular iris angle (nTIA, tTIA) were measured and compared with Bland-Altman plots.Results.Good agreement between the TD and SS OCT measurements was demonstrated for mCCT and aCCT in normal individuals and for mCCT in the CDs group. The ACD, nTIA, and tTIA measurements differed significantly in both groups. TBCD, LCD, and FECD caused increased CCT. MCD caused significant corneal thinning. FECD affected all analyzed parameters.Conclusions.Better agreement between SS OCT and TD OCT measurements was demonstrated in normal individuals compared to the CDs group. OCT provides comprehensive corneal deposits analysis and demonstrates the association of CD with CCT, ACD, and TIA measurements.

Meesmann Corneal Dystrophy Associated With Epithelial Basement Membrane and Posterior Polymorphous Corneal Dystrophies

Cornea ◽  
2008 ◽  
Vol 27 (3) ◽  
pp. 374-377 ◽  
Author(s):  
Federico A Cremona ◽  
Faris R Ghosheh ◽  
Peter R Laibson ◽  
Christopher J Rapuano ◽  
Elisabeth J Cohen
Keyword(s):  
Basement Membrane ◽  
Corneal Dystrophy ◽  
Corneal Dystrophies ◽  
Epithelial Basement Membrane ◽  
Epithelial Basement
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