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At least 19 recordsLinked to original sources
PubMed1978

Optometric management of Fuchs's endothelial dystrophy.

Fuchs's endothelial dystrophy interferes with removal of fluid from the cornea by the endothelium. It progresses through stages of corneal guttata, corneal edema, bullous keratopathy, vascularization, and scarring, and complications such as glaucoma or infection. The optometrist can detect this disorder and manage its early stages as well as provide counseling and proper referral. This paper includes a case study and a discussion of the course and treatment of this disease.

Adult↗
PubMed1977

Bullous keratopathy (Fuchs' endothelial dystrophy) treated systemically with 4-trans-amino-cyclohexano-carboxylic acid.

Twenty patients with bullous keratopathy (Fuchs' endothelial dystrophy) were treated systemically with the antifibrinolytic drug tranexamic acid. The effect was evaluated by slit-lamp biomicroscopy, measurement of central corneal thickness and determination of visual acuity. The patients subjective complaints were also registered. The duration of the treatment varied from 3 to 16 months. In most cases the treatment was given over several periods with intervening free intervals. In all cases the central corneal thickness decreased and slit-lamp biomicroscopy revealed an improvement. The visual acuity improved and all patients became free of pain. A possible mechanism involving the complement system is discussed and preliminary studies on the composition of the aqueous humour in cases of bullous keratopathy are mentioned.

Aged↗
PubMed1977

[Fuchs' endothelial dystrophy--the appearance of the corneal endothelium under the electron microscope (author's transl)].

Studying the various stages of Fuchs' endothelial dystrophy with transmission and surface electronmicroscopy makes the dystrophic and degenerative changes in the endothelial and Descemet's membrane visible: dystrophic changes by the formation of tuberosities, whose structure is very similar to that Descemet's membrane, and degenerative changes by reduction in the number of endothelial cells through destruction of the intercellular connections and through cell necrosis. The second stage is the reformation of the structure by fibroblastic cells. The dystrophic cells lead to the formation of a fibrillary tissue between the cells and the tuberosity-laden Descemet's membrane, which is different from the primary structure of this tissue. The origin of these cells is unknown.

Corneal Dystrophies, Hereditary↗
PubMed2025

Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy.

PURPOSE: To identify novel genetic causes of Fuchs endothelial corneal dystrophy (FECD) within a genetically unsolved patient cohort lacking repeat expansions in the TCF4 gene (Exp-). METHODS: A rare variant analysis framework (CoCoRV) was applied to exome data, in combination with in silico modeling, luciferase reporter, and RNA-seq analysis to characterize transcriptome-wide consequences of identified variants. RESULTS: A gene burden analysis identified MIR184, a microRNA encoding gene, to be enriched for rare pathogenic variants within the studied Exp- FECD cohort. In total, 2 noncoding rare variants were identified in 4 unrelated FECD probands: NR_029705.1:n.58G>A and n.73G>T. Both variants altered highly conserved mature sequence residues, were predicted to induce hairpin structural changes, and were experimentally determined to disrupt microRNA-mRNA interactions. RNA-seq of transfected human corneal endothelial cells revealed that the mutants elicited distinct transcriptomic profiles. Enriched KEGG pathways included PI3K-Akt signaling, focal adhesion, and immune response, revealing shared pathogenic mechanisms between MIR184-associated FECD and the more common TCF4 repeat expansion-mediated form of disease. CONCLUSION: MIR184 variants are a novel rare genetic cause of FECD, and common pathways of transcriptomic dysregulation are shared across genetically distinct subtypes of the disease. These pathways may serve as future gene agnostic targets for therapeutic interventions.

Humans↗
PubMed2025

Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.

IMPORTANCE: Understanding the pathogenic mechanisms of Fuchs endothelial corneal dystrophy (FECD) could contribute to developing gene-targeted therapies. OBJECTIVE: To investigate associations between demographic data and age at first keratoplasty in a genetically refined FECD cohort. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study recruited 894 individuals with FECD at Moorfields Eye Hospital (London) and General University Hospital (Prague) from September 2009 to July 2023. Ancestry was inferred from genome-wide single nucleotide polymorphism array data. CTG18.1 status was determined by short tandem repeat and/or triplet-primed polymerase chain reaction. One or more expanded alleles (&#x2265;50 repeats) were classified as expansion-positive (Exp+). Expansion-negative (Exp-) cases were exome sequenced. MAIN OUTCOMES AND MEASURES: Association between variants in FECD-associated genes, demographic data, and age at first keratoplasty. RESULTS: Within the total cohort (n&#x2009;=&#x2009;894), 77.3% of patients were Exp+. Most European (668 of 829 [80.6%]) and South Asian (14 of 22 [63.6%]) patients were Exp+. The percentage of female patients was higher (151 [74.4%]) in the Exp- cohort compared to the Exp+ cohort (395 [57.2%]; difference, 17.2%; 95% CI, 10.1%-24.3%; P&#x2009;<&#x2009;.001). The median (IQR) age at first keratoplasty of the Exp&#x2009;+&#x2009;patients (68.2 years [63.2-73.6]) was older than the Exp- patients (61.3 years [52.6-70.4]; difference, 6.5 years; 95% CI, 3.4-9.7; P&#x2009;<&#x2009;.001). The CTG18.1 repeat length of the largest expanded allele within the Exp+ group was inversely correlated with the age at first keratoplasty (&#x3b2;, -0.087; 95% CI, -0.162 to -0.012; P&#x2009;=&#x2009;.02). The ratio of biallelic to monoallelic expanded alleles was higher in the FECD cohort (1:14) compared to an unaffected control group (1:94; P&#x2009;<&#x2009;.001), indicating that 2 Exp+ alleles were associated with increased disease penetrance compared with 1 expansion. Potentially pathogenic variants (minor allele frequency, <0.01; combined annotation dependent depletion, >15) were only identified in FECD-associated genes in 13 Exp- individuals (10.1%). CONCLUSIONS AND RELEVANCE: In this multicenter cohort study among individuals with FECD, CTG18.1 expansions were present in most European and South Asian patients, while CTG18.1 repeat length and zygosity status were associated with modifications in disease severity and penetrance. Known disease-associated genes accounted for only a minority of Exp- cases, with unknown risk factors associated with disease in the rest of this subgroup. These data may have implications for future FECD gene-targeted therapy development.

Adult↗
PubMedDate not supplied

Corneal dystrophies. I. Dystrophies of the epithelium, Bowman's layer and stroma.

Most corneal dystrophies are autosomal dominant, bilateral disorders that primarily affect one layer of an otherwise normal cornea, progress slowly after their appearance in the first or second decade, and are not associated with a systemic disease. Epithelial basement membrane dystrophy and Fuchs' endothelial dystrophy are seen commonly by the general ophthalmologist; fleck, posterior polymorphous, granular or lattice dystrophies are seen more rarely, and others may never be seen in general office practice. While the distinctive clinical appearance of most corneal dystrophies allows accurate diagnosis, the integration of slitlamp findings with histopathologic and biochemical findings aids in the understanding of the clinical observations and provides a more rational basis for therapy. Transmission electtron microscopy is the most accurate method of histopathologic diagnosis. Epithelial dystrophies usually manifest intraepithelial cysts and abnormal basement membrane. In stromal dystrophies, an abnormal substance accumulates within the keratocytes or among the collagen fibrils; it may be an excess normal metabolite (like glycosaminoglycans in macular dystrophy), a material not usually present (like amyloid in lattice dystrophy), or a substance of unknown composition (like hyaline in granular dystrophy). Each dystrophy is illustrated with a composite drawing. Endothelial dystrophies will be reviewed separately in a second article.

Adolescent↗
PubMed2026

Descemet Stripping Only in Fuchs Endothelial Corneal Dystrophy: Results of a Randomized Clinical Trial of Topical Ripasudil and Directions for Future Innovation.

PURPOSE: To review history of Descemet stripping only (DSO) in Fuchs endothelial corneal dystrophy, describe the results of a clinical trial of topical ripasudil after DSO (K-321-201 study), and discuss future directions. METHODS: A 1-year, phase 2, randomized, placebo-controlled multicenter clinical trial of two doses of K-321 (ripasudil) administered for 12 weeks after DSO surgery in Fuchs endothelial corneal dystrophy was performed. The primary endpoint, central corneal endothelial cell density (ECD) at 12 weeks after surgery, was determined by an independent reading center that was masked to study group assignment. Duration of corneal edema, need for medical or surgical rescue therapy, corneal thickness, and central ECD throughout the entire study period were also examined. Adverse events and exploratory endpoints were collected. RESULTS: Sixty-five subjects were enrolled (21 in the QID group, 22 in the BID, and in the placebo group). Over 95% of subjects completed the trial. The QID group had a higher central ECD 12 weeks after DSO than the placebo group (531 &#xb1; 312 cells/mm2 vs 228 &#xb1; 298 cells/mm2, P = .0065). Corneal edema cleared in 17/21 (81.0%) of the QID group at 12 weeks, compared with 2/22 (9.1%) of the placebo group (P < .0001). Rescue was required in 2/21 (9.5%) subjects in the QID group and 6/22 (27.3%) subjects in the placebo group (P = .0092). Adverse events were mild and did not lead to discontinuation of treatment. CONCLUSIONS: Topical K-321 given QID improves DSO outcomes, as demonstrated by a higher ECD, more rapid resolution of corneal edema, and reduced failure rate. The medication was well-tolerated.

Humans↗
PubMedDate not supplied

Corneal dystrophies. II. Endothelial dystrophies.

In general, endothelial dystrophies present three types of clinical manifestations: 1) production of collagenous tissue posterior to Descemet's membrane which appears as cornea guttata, polymorphic excrescences or gray sheets; 2) a disrupted endothelial mosaic in specular reflection; and 3) corneal edema as a reflection of decreased endothelial barrier and pump functions. In this review, the authors discuss three endothelial dystrophies -- Fuchs', posterior polymorphous and congenital hereditary. They describe the clinical, histopathologic and biochemical features, and illustrate each dystrophy with a composite drawing. Dystrophies of the epithelium, Bowman's layer, and stroma were reviewed separately in the September-October 1978 issue of this journal.

Adult↗
PubMed1979

Fibrinolytic factors in aqueous humour and serum from patients with Fuchs' dystrophy and patients with cataract.

The concentration of alpha 2-macroglobulin, alpha 1-antitrypsin, plasminogen, C3-complement, fibrinogen degradation products (FDP) and fibrinolytic activity, were studied in the aqueous humour and serum from nine patients with Fuchs' endothelial dystrophy, 17 patients with uncomplicated senile cataract and in the secondary aqueous from six cataract patients. Finally, the aqueous humour and serum from two patients anterior uveitis were studied. An increased concentration of alpha 2-macroglobulin, alpha 1-antitrypsin, plasminogen and C3-complement was found in both the aqueous and the serum from patients with Fuchs' dystrophy when compared with the primary aqueous and serum from patients with cataract but this was only significant for alpha 1-antitrypsin in aqueous humour. A significant increase in the amount of FDP was found in the serum of the Fuchs' patients compared with the cataract patients. Fibrinolytic activity could not be demonstrated in the serum in any of the patient groups. The concentrations of the various factors found in the secondary aqueous of the cataract patients differed only slightly from the content of the primary aqueous of the Fuchs' patients.

Aged↗
PubMed2026

Biallelic rescue of CTG18.1 in two Fuchs endothelial corneal dystrophy-derived iPSC lines (SCTCi047-A-2, SCTCi046-A-2) following a two-step gene editing strategy.

Fuchs endothelial corneal dystrophy (FECD) is an age-related condition distinguished by the degeneration of the corneal endothelium. An intronic CTG18.1 repeat in the transcription factor 4 (TCF4) gene has been associated with a 78-fold increased risk of developing the disease when at least one copy of the CTG18.1 expands above 50 repeats. Employing patient-derived material, we applied a dual CRISPR/Cas9-mediated editing approach to rescue the expansion. Combining non-homologous end-joining (NHEJ) and homologous direct repair (HDR) events, we generated two FECD-derived +/+(CTG)8 induced pluripotent stem cell (iPSC) lines, which were then successfully characterized, providing relevant isogenic controls for disease-modelling purposes.

Humans↗
PubMed1978

Corneal endothelial dystrophy. A study of 64 families.

A prospective study was undertaken during an 18-month period with 64 families who had endothelial dystrophy. Two hundred twenty-eight relatives were examined. Of those older than the age of 40, 38% were affected. Women were affected more severely and 2.5 times more frequently than men. The disease showed a strong familial tendency: there was one family in which three generations were affected and 16 families in which two generations were affected. There were four families that had members with edema in two generations. There was no association between edema in a parent and edema in a child. The proportion of relatives affected and the severity of involvement increased with age. Fifty-three probands and 18 relatives had endothelial dystrophy with edema (Fuchs' dystrophy). Of these 71, one had glaucoma.

Adolescent↗
PubMed1976

Changing indications for keratoplasty.

We conducted a clinical and pathologic review of 1,057 recipient corneal buttons on file at the Wilmer Institute, to assess the incidence of corneal conditions treated with keratoplasty, and how these have changed (1941-1973). Regrafting was the most frequent indication for keratoplasty in the last ten years in this series. Some corneal diseases, such as inflammatory conditions, decreased in relative importance as an indication for keratoplasty, while others such as aphakic bullous keratopathy (including vitreous touch) and Fuchs' endothelial dystrophy increased.

Corneal Diseases↗
PubMed1978

[Importance of the viability of the endothelium of corneal grafts].

Since we use a very strict control of the viability of the endothelium of the graft, we have no more failures in corneal grafting not even in cases with bad prognoses, such as Fuchs' endothelial dystrophy. On the contrary, in corneal grafting without this control, we had failures in 20% of the cases.

Cell Survival↗
PubMedDate not supplied

[Fuchs' syndrome].

Explore the source record for details and available documents.

Adult↗
PubMed1977

The phacoemulsification procedure. III. Corneal complications.

Persistent corneal edema is one of the complications of phacoemulsification. Five patients underwent this procedure 6 to 8 months before keratoplasty was performed. In addition to bullous keratopathy, two corneas had corneal scarring due to probe overheating or corneal vascularization of the anterior chamber. Electron microscopy of corneal specimens showed that four cases had Fuch's dystrophy without warts and one had guttata. Endothelial cell destruction varied from lessions of small size (15 to 50 mu) to large abrasions. Cases with severe edema and vitreous adhesion showed retrocorneal membrane formation. Surgical trauma seemed to have precipitated decompensation of these dystrophic corneas.

Aged↗