Corneal Dystrophy Research Articles

Deep learning for detection of Fuchs endothelial dystrophy from widefield specular microscopy imaging: a pilotstudy

BackgroundTo describe the diagnostic performance of a deep learning (DL) algorithm in detecting Fuchs endothelial corneal dystrophy (FECD) based on specular microscopy (SM) and to reliably detect widefield peripheral SM images with an endothelial cell density (ECD) > 1000 cells/mm2.MethodsFive hundred and forty-seven subjects had SM imaging performed for the central cornea endothelium. One hundred and seventy-three images had FECD, while 602 images had other diagnoses. Using fivefold cross-validation on the dataset containing 775 central SM images combined with ECD, coefficient of variation (CV) and hexagonal endothelial cell ratio (HEX), the first DL model was trained to discriminate FECD from other images and was further tested on an external set of 180 images. In eyes with FECD, a separate DL model was trained with 753 central/paracentral SM images to detect SM with ECD > 1000 cells/mm2 and tested on 557 peripheral SM images. Area under curve (AUC), sensitivity and specificity were evaluated.ResultsThe first model achieved an AUC of 0.96 with 0.91 sensitivity and 0.91 specificity in detecting FECD from other images. With an external validation set, the model achieved an AUC of 0.77, with a sensitivity of 0.69 and specificity of 0.68 in differentiating FECD from other diagnoses. The second model achieved an AUC of 0.88 with 0.79 sensitivity and 0.78 specificity in detecting peripheral SM images with ECD > 1000 cells/mm2.ConclusionsOur pilot study developed a DL model that could reliably detect FECD from other SM images and identify widefield SM images with ECD > 1000 cells/mm2 in eyes with FECD. This could be the foundation for future DL models to track progression of eyes with FECD and identify candidates suitable for therapies such as Descemet stripping only.

Morphological Characteristics of Granular Corneal Dystrophy Type 1 in the Korean Population

Purpose: Granular corneal dystrophy type 1 (GCD1) is a genetic disorder characterized by grayish-white granular deposits in the corneal stroma, typically manifesting before age 10. The specific characteristics of GCD1 in the Korea population remain insufficiently described. This study investigated the morphological features of GCD1 corneas with confirmed genetic mutations in this population.Methods: Medical records of GCD1 patients with the R555W mutation confirmed through transforming growth factor β induced (TGFBI) gene testing on oral epithelium or blood samples from 2005-2022, were analyzed. Corneal photographs obtained using a slit lamp biomicroscope were also examined.Results: The study group included 11 males and 19 females with an average age of 35.7 years, ranging from 3-70 years. All participants were heterozygotes. In 28 individuals (56 eyes, representing 93.3% of the total), there were signs of corneal deposit detachments, known as “drop-off”, observed in patients aged 6 years and above. Surface deposits reemerged at the peripheral margin of previous locations and expanded toward the center. The number and shape of opacities significantly changed with age, showing cycles of deposition and shedding. There were variations in the severity of opacities within the same family, particularly with advancing age, and distinct opacities extending into deeper stromal layers.Conclusions: This study outlines the morphological characteristics of corneas in Korean GCD1 patients, based on corneal photograph analysis. These findings provide a basis for future comparative studies with GCD2 and may aid rapid clinical diagnosis based on clinical findings, prior to genetic testing confirmation.

A bilateral corneal descemetocele as a consequence of corneal dystrophy in a ferret (Mustela putorius furo)

AbstractThe purpose was to describe the clinical findings, surgery and outcome of a bilateral descemetocele in a ferret (Mustela putorius furo), resulting from corneal dystrophy. A female ferret was diagnosed with a descemetocele in the left eye, as a result of corneal dystrophy with crystalline deposits, which spontaneously detached. Surgery was performed with a corneal graft and a conjunctival flap. No systemic disease was correlated with the corneal dystrophy. After 3 months, the ferret was presented with a descemetocele of the right eye, still due to corneal dystrophy. The same surgery as previously described was performed. The ferret recovered uneventfully from both surgeries and maintained vision from both eyes. This is the first report of corneal dystrophy in a ferret, and the first report of successful surgery on a descemetocele in this species. Surgery is the treatment of choice, and if performed quickly and adequately, has a good outcome.

Applications of Imaging Technologies in Fuchs Endothelial Corneal Dystrophy: A Narrative Literature Review.

Fuchs endothelial corneal dystrophy (FECD) is a complex genetic disorder characterized by the slow and progressive degeneration of corneal endothelial cells. Thus, it may result in corneal endothelial decompensation and irreversible corneal edema. Moreover, FECD is associated with alterations in all corneal layers, such as thickening of the Descemet membrane, stromal scarring, subepithelial fibrosis, and the formation of epithelial bullae. Hence, anterior segment imaging devices that enable precise measurement of functional and anatomical changes in the cornea are essential for the management of FECD. In this review, the authors will introduce studies on the application of various imaging modalities, such as anterior segment optical coherence tomography, Scheimpflug corneal tomography, specular microscopy, in vitro confocal microscopy, and retroillumination photography, in the diagnosis and monitoring of FECD and discuss the results of these studies. The application of novel technologies, including image processing technology and artificial intelligence, that are expected to further enhance the accuracy, precision, and speed of the imaging technologies will also be discussed.

Comparative Analysis of Tomographic Indicators Forecasting Decompensation in Fuchs Endothelial Corneal Dystrophy.

To compare the performance of 3 commercially available tomographers (the Pentacam Scheimpflug camera, the swept-source optical coherence tomography Casia, and the blue light slit-scanning tomographer Precisio) in the identification of patterns associated with Fuchs endothelial corneal dystrophy (FECD) decompensation. This was a clinic-based cross-sectional imaging study. Pachymetry maps and posterior surface elevation maps were acquired with the 3 devices from 61 eyes affected by FECD. The maps were graded according to the evidence of tomographic patterns predictive of FECD decompensation (loss of parallel isopachs, displacement of the thinnest point, and focal posterior depression) by 2 blind cornea specialists. The loss of parallel isopachs was significantly less frequently evident in Pentacam pachymetry maps [8%, 95% confidence interval (CI) (3%, 18%)] compared with both the Casia [31%, 95% CI (20%, 44%), P = 0.01] and Precisio devices [24%, 95% CI (15%, 37%), P = 0.05]. The displacement of the thinnest point was graded as most evident in a significantly higher proportion of Precisio pachymetry maps [43%, 95% CI (31%, 55%)] compared with both the Pentacam [13%, 95% CI (6%, 24%), P = 0.001] and Casia devices [21%, 95% CI (12%, 33%), P = 0.03]. There were no significant differences in the identification of focal posterior depression on posterior elevation maps across the 3 devices. Identification of patterns predictive of FECD prognosis on pachymetry and posterior elevation maps is possible with different devices. However, their evidence varies across tomographers, and the results from different devices are not interchangeable.

Ocular Pathology and Genetics: Transformative Role of Artificial Intelligence (AI) in Anterior Segment Diseases.

Artificial intelligence (AI) has become a revolutionary influence in the field of ophthalmology, providing unparalleled capabilities in data analysis and pattern recognition. This narrative review delves into the crucial role that AI plays, particularly in the context of anterior segment diseases with a genetic basis. Corneal dystrophies (CDs) exhibit significant genetic diversity, manifested by irregular substance deposition in the cornea. AI-driven diagnostic tools exhibit promising accuracy in the identification and classification of corneal diseases. Importantly, chat generative pre-trained transformer (ChatGPT)-4.0 shows significant advancement over its predecessor, ChatGPT-3.5. In the realm of glaucoma, AI significantly contributes to precise diagnostics through inventive algorithms and machine learning models, surpassing conventional methods. The incorporation of AI in predicting glaucoma progression and its role in augmenting diagnostic efficiency is readily apparent. Additionally, AI-powered models prove beneficial for early identification and risk assessment in cases of congenital cataracts, characterized by diverse inheritance patterns. Machine learning models achieving exceptional discrimination in identifying congenital cataracts underscore AI's remarkable potential. The review concludes by emphasizing the promising implications of AI in managing anterior segment diseases, spanning from early detection to the tailoring of personalized treatment strategies. These advancements signal a paradigm shift in ophthalmic care, offering optimism for enhanced patient outcomes and more streamlined healthcare delivery.

A Review of the Management of Fuchs Endothelial Corneal Dystrophy

Fuchs Endothelial Corneal Dystrophy leads to progressive visual deterioration that may cause acutely painful episodes. Medical management has been limited to prescribing hyperosmotic agents. The advancement in therapeutic and surgical management has led to earlier intervention, better visual prognosis, and improved quality of life for patients affected by FECD. Optometrists play a role in the management of this condition’s diagnosis, treatment, and postsurgical care.

Performance of ChatGPT in Diagnosis of Corneal Eye Diseases.

The aim of this study was to assess the capabilities of ChatGPT-4.0 and ChatGPT-3.5 for diagnosing corneal eye diseases based on case reports and compare with human experts. We randomly selected 20 cases of corneal diseases including corneal infections, dystrophies, and degenerations from a publicly accessible online database from the University of Iowa. We then input the text of each case description into ChatGPT-4.0 and ChatGPT-3.5 and asked for a provisional diagnosis. We finally evaluated the responses based on the correct diagnoses, compared them with the diagnoses made by 3 corneal specialists (human experts), and evaluated interobserver agreements. The provisional diagnosis accuracy based on ChatGPT-4.0 was 85% (17 correct of 20 cases), whereas the accuracy of ChatGPT-3.5 was 60% (12 correct cases of 20). The accuracy of 3 corneal specialists compared with ChatGPT-4.0 and ChatGPT-3.5 was 100% (20 cases, P = 0.23, P = 0.0033), 90% (18 cases, P = 0.99, P = 0.6), and 90% (18 cases, P = 0.99, P = 0.6), respectively. The interobserver agreement between ChatGPT-4.0 and ChatGPT-3.5 was 65% (13 cases), whereas the interobserver agreement between ChatGPT-4.0 and 3 corneal specialists was 85% (17 cases), 80% (16 cases), and 75% (15 cases), respectively. However, the interobserver agreement between ChatGPT-3.5 and each of 3 corneal specialists was 60% (12 cases). The accuracy of ChatGPT-4.0 in diagnosing patients with various corneal conditions was markedly improved than ChatGPT-3.5 and promising for potential clinical integration. A balanced approach that combines artificial intelligence-generated insights with clinical expertise holds a key role for unveiling its full potential in eye care.

Differences in Guttae Ultramorphology in Relation to Visual Function in Fuchs Endothelial Corneal Dystrophy.

The purpose of this study was to investigate the differences in guttae ultramorphology and their relation to visual function in eyes with Fuchs endothelial corneal dystrophy (FECD). Thirty FECD eyes without ocular comorbidities were included. Visual functional parameters (best-corrected visual acuity with high-contrast and low-contrast letters and contrast sensitivity/LogCS) and corneal morphology measured with Scheimpflug tomography (Pentacam) were assessed. The surgically removed Descemet membranes were examined by light and transmission electron microscopy. Preoperative mean best-corrected visual acuity (logarithm of the minimum angle of resolution) was 0.52 ± 0.18, LogCS 0.96 ± 0.21 and central corneal thickness 640 ± 55 μm. All eyes had signs of subclinical corneal edema in Scheimpflug tomography; clinically visible corneal edema was present in 40% of eyes. Histological findings included a posterior fibrillar zone (PFZ) in 10 specimens (33%) and abnormal collagen depositions in Descemet membranes in 14 specimens (47%). Guttae buried within the PFZ were present only in eyes with clinically visible edema (n = 4, 13%). There was no difference in visual function results and tomography parameters between eyes with and without PFZ or between protruding guttae and guttae embedded in a PFZ, respectively. Guttae morphology and density were not correlated with visual functional parameters. Guttae buried in a PFZ occurred only in eyes with clinically manifest edema, and thereby, they are an ultramorphological sign for advanced FECD. Subclinical edema was present in all eyes and might be more relevant for quality of vision than guttae ultramorphology.

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

BackgroundThe neurodevelopmental prognosis of anomalies of the corpus callosum (ACC), one of the most frequent brain malformations, varies extremely, ranging from normal development to profound intellectual disability (ID). Numerous genes...

Absence of the Klotho Function Causes Cornea Degeneration with Specific Features Resembling Fuchs Endothelial Corneal Dystrophy and Bullous Keratopathy.

The Klotho loss-of-function mutation is known to cause accelerated senescence in many organs, but its effects on the cornea have not been published. The present study aims to investigate the effects of the Klotho null mutation on cornea degeneration and to characterize the pathological features. Mouse corneas of Klotho homozygous, heterozygous, and wild-type mice at 8 weeks of age for both genders were subject to pathological and immunohistological examinations. The results show an irregular topography on the corneal surface with a Klotho null mutation. Histological examinations revealed a reduced corneal epithelial cell density, endothelial cell-shedding, and decreased cornea stromal layer thickness in the absence of the Klotho function. Furthermore, guttae formation and the desquamation of wing cells were significantly increased, which was comparable to the characteristics of Fuchs endothelial corneal dystrophy and bullous keratopathy. The mechanism analysis showed multi-fold abnormalities, including oxidative stress-induced cornea epithelium apoptosis and inflammation, extracellular matrix remodeling in the stroma, and a disruption of epithelial repair, presumably through the epithelial-mesenchymal transition. In conclusion, cornea degeneration was observed in the Klotho loss-of-function mutant mice. These pathological features support the use of Klotho mutant mice for investigating age-related cornea anomalies, including Fuchs endothelial corneal dystrophy, bullous keratopathy, and dry eye diseases.

Long noncoding RNA ZFAS1: A novel anti-apoptotic target in Fuchs endothelial corneal dystrophy

Fuchs endothelial corneal dystrophy (FECD) is the leading cause of endothelial keratoplasty without efficacious drug treatment. Recent studies have emphasized the involvement of epigenetic regulation in FECD development. Long non-coding RNAs (lncRNAs) are recognized as crucial epigenetic regulators in diverse cellular processes and ocular diseases. In this study, we revealed the expression patterns of lncRNAs using high-throughput sequencing technology in FECD mouse model, and identified 979 significantly dysregulated lncRNAs. By comparing the data from FECD human cell model, we obtained a series of homologous lncRNAs with similar expression patterns, and revealed that these homologous lncRNAs were enriched in FECD related biological functions, with apoptosis (mmu04210) showing the highest enrichment score. In addition, we investigated the role of lncRNA zinc finger antisense 1 (ZFAS1) in apoptotic process. This study would broaden our understanding of epigenetic regulation in FECD development, and provide potential anti-apoptotic targets for FECD therapy.

IC3D Classification of Corneal Dystrophies-Edition 3.

The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature. Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)]. Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( COL17A1 mutations, chromosome 10). Signs and symptoms are similar to Franceschetti corneal dystrophy, dystrophia Smolandiensis, and dystrophia Helsinglandica, category 4. Lisch epithelial corneal dystrophy, previously reported as X-linked, has been discovered to be autosomal dominant ( MCOLN1 mutations, chromosome 19). Classic lattice corneal dystrophy (LCD) results from TGFBI R124C mutation. The LCD variant group has over 80 dystrophies with non-R124C TGFBI mutations, amyloid deposition, and often similar phenotypes to classic LCD. We propose a new nomenclature for specific LCD pathogenic variants by appending the mutation using 1-letter amino acid abbreviations to LCD. Pre-Descemet corneal dystrophies include category 1, autosomal dominant, punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) ( PRDX3 mutations, chromosome 10). Typically asymptomatic, it can be distinguished phenotypically from pre-Descemet corneal dystrophy, category 4. We include a corneal dystrophy management table. The IC3D third edition provides a current summary of corneal dystrophy information. The article is available online at https://corneasociety.org/publications/ic3d .

Gelatinous Drop-Like Corneal Dystrophy in an Acehnese Family: Serial Cases.

Introduction : Gelatinous drop-like dystrophy (GDLD) is a rare type of corneal dystrophy with an autosomal recessive inheritance pattern. Although the prevalence in Japan is approximately 1 in 33,000, it is much less common in other nations. Lamellar or penetrating keratoplasty is needed for most patients to alleviate the symptoms. This case series aims to provide knowledge regarding rare cases of GDLD and its management.
 Case Illustration : Three male siblings from consanguineous marriage were found to have corneal dystrophy, characterized by a white-yellow nodular lesion with a kumquat-like appearance on the corneal surface. The visual acuity of each patient was light perception with good projection. To treat the condition, all patients underwent full-thickness penetrating keratoplasty. One month after the procedure, their visual acuity had improved to 3/60, 2/60, and 2/60, respectively.
 Discussion : GDLD is a genetic disease with gelatinous amyloid deposits in the cornea that typically manifests within the first decades of life. GDLD can present in three different phenotypes, including band keratopathy, mulberry, and kumquat-like appearance. In the case of these siblings, they have developed the severe kumquat-like phenotype. Detection by examining family involvement and the cornea's clinical presentation can help diagnose GDLD. Full-thickness penetrating keratoplasty can be an option for managing severely impaired visual acuity caused by GDLD.
 Conclusion : GDLD is a rare corneal dystrophy that can lead to severe visual impairment. The objective of treating GDLD is to enhance vision and prevent its progression. Vision loss can be alleviated througha surgical procedure such as full-thickness penetrating keratoplasty.

Fuchs endothelial corneal dystrophy: an updated review.

The present review will summarize FECD-associated genes and pathophysiology, diagnosis, current therapeutic approaches, and future treatment perspectives. Literature review. Fuchs' endothelial corneal dystrophy (FECD) is the most common bilateral corneal dystrophy and accounts for one-third of all corneal transplants performed in the US. FECD is caused by a combination of genetic and non-heritable factors, and there are two types: early-onset FECD, which affects individuals from an early age and is usually more severe, and late-onset FECD, which is more common and typically manifests around the age of 40. The hallmark findings of FECD include progressive loss of corneal endothelial cells and the formation of focal excrescences (guttae) on the Descemet membrane. These pathophysiological changes result in progressive endothelial dysfunction, leading to a decrease in visual acuity and blindness in later stages. The present review will summarize FECD-associated genes and pathophysiology, diagnosis, current therapeutic approaches, and future treatment perspectives. With the characterization and understanding of FECD-related genes and ongoing research into regenerative therapies for corneal endothelium, we can hope to see more significant improvements in the future in the management and care of the disease.

Prosthetic Contact Lens Combined with Strabismus Surgery : Confronting Psychosocial Prejudice in Anomalous and Misaligned Eyes

Introduction : Patients with defects in the cornea such as abnormal size, opacities as well as misalignment of the eyes may feel inferior about their physical appearance. Such patients will benefit from prosthetic contact lenses (CL) and strabismus surgery to restore anatomical appearance. The majority of patients also seek strabismus surgery for both cosmetic and psychosocial reasons along with decreased levels of anxiety and depression. Our goal not merely cosmetic, but also improving psychosocial health and quality of life.
 Case Illustration : We reported a 14-year-old male with complaints of white spot on his left eye and squint since birth. On ophthalmology examination, we found 45 degree esotropia with BCVA 6/6 in the right eye and 1/300 in the left eye. Corneal diameter was 10 mm and 9 mm on the right and left eye, respectively. He was diagnosed with right eye posterior embryotoxon, left eye corneal dystrophy, microcornea on both eye, congenital esotropia and deprivative amblyopia. He had developed low self-esteem due to his eyes. To enhance his appearance, left eye lateral rectus resection and medial rectus recession with adjustable suture was done to align the eye. Afterwards, brown-tinted soft contact lens with power -0.50 D, diameter 14,2 mm, and base curve 8,5 mm was given to disguise the corneal opacities and microcornea. Patient felt very satisfied with the result.
 Discussion : 
 Conclusion : Prosthetic contact lens combined with strabismus surgery provides satisfactory cosmetic and psychosocial benefit with minimal complications. As clinicians, functional, cosmetic and psychosocial indications must be considered for a comprehensive management.

Enhanced Monofocal Intraocular Lenses in Fuchs' Endothelial Dystrophy Patients: Results from Triple Descemet Membrane Endothelial Keratoplasty Procedure.

Descemet membrane endothelial keratoplasty (DMEK) is currently regarded as the most effective surgical procedure for addressing Fuchs Endothelial Corneal Dystrophy (FECD), frequently performed in conjunction with cataract surgery. In this retrospective study, we present a comparison of visual performance, clinical outcomes, and optical quality between two types of monofocal Intraocular Lenses (IOLs): one standard and one enhanced intermediate vision model, implanted in patients who underwent combined phacoemulsification and DMEK surgery. This single center comparative retrospective study was conducted at the Eye Clinic of the University of Florence (Italy) and included a total of 48 eyes of 48 patients affected by FECD and cataract. All patients underwent combined DMEK with phacoemulsification procedures. The patients' data were analyzed and divided into two groups: one group (standard group) consisted of 24 eyes that underwent phaco-DMEK with implantation of a monofocal IOL, and the second group (enhanced monofocal group) included 24 eyes that underwent phaco-DMEK with implantation of an enhanced monofocal IOL. In both groups, the following monocular visual outcomes were evaluated 6 months after surgery: Uncorrected Distance Visual Acuity (UDVA) and Best-Corrected Distance Visual Acuity (BCDVA) at 4 mts; Uncorrected Intermediate Visual Acuity (UIVA), Distance-Corrected Intermediate Visual Acuity (DCIVA) at 66 cm; Uncorrected Near Visual Acuity (UNVA) and Best Corrected Near Visual Acuity (BCNVA). Monocular defocus curves were also assessed. Furthermore, optical quality in terms of Contrast Sensitivity (CS) in photopic conditions, Higher-Order Aberrations (HOAs) at a pupil size of 5 mm. Modulation Transfer Function (MTF), Objective Scatter Index (OSI), and Strehl ratio, were also analyzed. A Patient-Reported Spectacle Independence Questionnaire was revised to evaluate spectacle independence outcomes. the two groups did not exhibit statistically significant differences in terms of UDVA, BCDVA, UNVA and BCNVA, photopic CS, HOAs, OSI, Strehl ratio, and MTF. However, in the phaco-DMEK enhanced monofocal IOL group, significantly better results were observed in terms of UIVA and DCIVA as well as a different defocus curve profile at 1.50 D, providing better defocus results at intermediate distance compared with the ZCB00 IOL. In our study, we found that enhanced monofocal lens performed favorable visual outcomes, even in cases of FECD, compared to standard monofocal IOLs. Comparable optical quality observed in the Eyhance group could allow surgeons to consider these lenses as a viable option for selected patients with FECD.

Fuch's Endothelial Corneal Dystrophy in Cataract Patients Is Associated with Elevated Levels of Inflammatory Chemokines, but Not Growth Factors, in the Aqueous Humor.

The study investigated a profile of chemokines and growth factors in the aqueous humor (AH) of eyes with Fuch's endothelial corneal dystrophy (FECD) and cataracts in comparison with cataract patients as a control group. A total of 52 AH samples (26 FECD + cataract and 26 cataract/control) were collected before cataract surgery. None of the patients had any clinically apparent inflammation at the time of AH collection. The AH levels of MCP-1 (CCL2), MIP-1α (CCL3), MIP-1β(CCL4), RANTES (CCL5), eotaxin (CCL11), IP-10 (CXCL10), FGF basic, G-CSF, GM-CSF, PDGF-bb, and VEGF were compared between the groups. The analyses were performed using the Bio-Plex 200 System from Bio-Rad. Among the studied parameters, the AH levels of RANTES, eotaxin, and IP-10 significantly increased in the FECD + cataract eyes, compared with the cataract controls (p < 0.05). Elevated levels of the RANTES, Eotaxin, and IP-10 indicate more intense inflammation in the eyes of patients in the FECD + cataract group. Moreover, these factors exhibit potential as predictive biomarkers for early detection of FECD in cataract patients. The discovery of elevated concentrations of biochemical markers in a patient, who has not yet received a clinical diagnosis, may suggest the need for heightened observation of the other eye to monitor the potential development of FECD.

Predicting Long-Term Endothelial Cell Loss after Preloaded Descemet Membrane Endothelial Keratoplasty in Fuchs’ Endothelial Corneal Dystrophy: A Mathematical Model

(1) Background: This study offers a biexponential model to estimate corneal endothelial cell decay (ECD) following preloaded “endothelium-in” Descemet membrane endothelial keratoplasty (DMEK) in Fuchs’ endothelial corneal dystrophy (FECD) patients; (2) Methods: A total of 65 eyes undergoing DMEK alone or combined with cataract surgery were evaluated. The follow-up period was divided into an early phase (first 6 months) and a late phase (up to 36 months). Endothelial cell count (ECC) and endothelial cell loss (ECL) were analyzed; (3) Results: The half time of the ECD was 3.03 months for the early phase and 131.50 months for the late phase. The predicted time-lapse interval to reach 500 cells/mm2 was 218 months (18.17 years), while the time-lapse interval to reach 250 cells/mm2 was 349 months (29.08 years). There was no statistically significant difference between the ECL in DMEK combined with cataract extraction and DMEK alone at 24 months (p ≥ 0.20). At the late phase, long-term ECL prediction revealed a lower ECC half time in patients undergoing DMEK combined with cataract surgery (98.05 months) than DMEK alone (250.32 months); (4) Conclusions: Based on the mathematical modeling, a predicted average half-life of a DMEK graft could reach 18 years in FECD. Moreover, combining cataract extraction with DMEK could result in excessive ECL in the long term.

Comparison of Scheimpflug and Anterior Segment Optical Coherence Tomography Imaging Parameters for Japanese Patients With Fuchs Endothelial Corneal Dystrophy With and Without TCF4 Repeat Expansions.

The aim of this study was to investigate the association between cytosine-thymine-guanine trinucleotide repeat (TNR) expansion in TCF4 and the clinical phenotypes of corneal densitometry or anterior segment morphology in Fuchs endothelial corneal dystrophy. This retrospective cross-sectional study included 150 eyes from 75 Japanese consecutive patients with Fuchs endothelial corneal dystrophy. Cytosine-thymine-guanine repeat expansion of leukocyte-derived genomic DNA was analyzed through fragment analysis using polymerase chain reaction and triplet repeat primed polymerase chain reaction. Scheimpflug-based densitometry and anterior segment optical coherence tomography were applied. Corneal densitometry, and corneal and anterior segment morphology parameters were compared between patients with and without TNR expansion of 50 or more (expansion and nonexpansion groups, respectively) using a mixed model. The average age of the patients was 66.8 ± 13.0 years, and the modified Krachmer grading scale was 1, 2, 3, 4, 5, and 6 for 7, 32, 28, 51, 6, and 18 eyes, respectively. Sixteen patients (21%) exhibited ≥50 TNR expansion. No significant differences in sex, age, history of keratoplasty, modified Krachmer grade, and corneal densitometry in either diameter or depth were observed between the 2 groups. No significant differences in anterior segment morphology, including the anterior chamber depth and anterior chamber angle width parameters, were observed using a univariate mixed model, except for central corneal thickness (P = 0.047). However, according to the multivariate mixed model, repeat expansion was not significantly associated with central corneal thickness (P = 0.27). No significant differences in clinical phenotypes were found between Japanese patients having Fuchs endothelial corneal dystrophy with and without TNR expansion.