The influence of obesity, diabetes mellitus and smoking on fuchs endothelial corneal dystrophy (FECD).

To detect environmental factors, which may be possible risk factors in the disease course of Fuchs' endothelial corneal dystrophy (FECD). Evaluation of patients with FECD registered in the FECD genetics database of the Center for Ophthalmology, University Hospital Cologne. For the evaluation, disease onset, central corneal thickness, best spectacle corrected visual acuity (BSCVA, logMAR), and modified Krachmer grading (grades 1-6) were correlated with the presence of diabetes mellitus (DM), body mass index (BMI), and smoking behavior. To put the age-related increase in Krachmer grading into perspective, a correction of grading were formed. Depending on the variables studied, differences between groups were examined by Mann-Whitney U test and chi-square test. The significance level was 5%. 403 patients with FECD were included in the analysis. The mean age of the patients was 70.0 ± 10.32 (range 28-96) years. The mean age at diagnosis of those patients was 63.1 ± 13.2 years. The female-to-male ratio was 1.46:1. Patients with a BMI > 30.0 kg/m2 developed FECD significantly earlier than patients with a BMI < 30 kg/m2, p = 0.001. Patients with DM showed significantly more often an Krachmer grade of 5, p = 0.015. Smoking had a negative effect on Krachmer grading (p = 0.024). Using the mediation analysis, the presence of DM correlated Krachmer Grade 5 (p = 0.015), and the presence of DM correlated with BMI > 30.0 kg/m2 (p = 0.012). In addition to smoking and DM our study shows for the first time that obesity may have a negative impact on the development of FECD. Whether dietary interventions and hormones can influence the development or progression of the disease needs to be investigated in future studies.

Demographic profile and clinical characteristics of Fuchs' endothelial corneal dystrophy in a tertiary eye care center.

Purpose: This study was performed to determine the demographic profile and clinical characteristics in patients with Fuchs' endothelial corneal dystrophy (FECD) reporting to a tertiary eye care center in India. It is a retrospective, single-center, observational study. Methods: The study included 280 patients (559 eyes) diagnosed with FECD presenting between January 2013 and December 2020. The data was collected from the electronic medical record system of the institute. Patient data included demographic features, clinical characteristics, investigations, and surgical interventions. Results: The mean age of the patients was 62 years. Late-onset FECD (95.7%) was more common than early-onset FECD (4.3%). Male: female ratio for late-onset FECD and early-onset FECD was 1:1.65 and 3:1, respectively. More than one-third of the patients had associated systemic history. Preexisting ocular diseases were seen in 5.9% of eyes. Blurring of vision was seen in 383 eyes (68.5%), 13 eyes (2.1%) had glare, and 163 eyes (29.2%) were asymptomatic. A total of 113 surgical interventions were done in 108 eyes (including repeat transplants). Only cataract surgery was done in 40 (7.2%) eyes, whereas penetrating keratoplasty, Descemet stripping endothelial keratoplasty, and Descemet membrane endothelial keratoplasty without or with cataract surgery (sequential or triple procedure) were done in 12 (2.1%), 47 (8.4%), and 14 (2.5%) eyes, respectively. Conclusion: Patients with FECD present mostly during the sixth decade. Posterior lamellar keratoplasty is the most common transplant procedure being performed on FECD patients.

TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy.

PURPOSE: Fuchs' endothelial corneal dystrophy (FECD) has been considered a genetically heterogeneous disease but is increasingly associated with the transcription factor 4 (TCF4) gene. This study investigates the prevalence of the cytosine-thymine-guanine (CTG)n repeat expansion in TCF4 among FECD patients in northern Sweden coupled to the phenotype. METHODS: Blood samples were collected from 85 FECD cases at different stages. Short tandem repeat PCR and triplet repeat-primed PCR were applied in order to determine TCF4 (CTG)n genotype. RESULTS: A (CTG)n repeat expansion (n > 50) in TCF4 was identified in 76 of 85 FECD cases (89.4%) and in four of 102 controls (3.9%). The median (CTG)n repeat length was 81 (IQR 39.3) in mild FECD and 87 (IQR 13.0) in severe FECD (p = 0.01). A higher number of (CTG)n repeats in an expanded TCF4 allele increased the probability of severe FECD. Other ocular surgery was overrepresented in FECD cases without a (CTG)n repeat expansion (44.4%, n = 4) compared with 3.9% (n = 3) in FECD cases with an (CTG)n repeat expansion (p < 0.001). CONCLUSION: In northern Sweden, the FECD phenotype is associated with (CTG)n expansion in the TCF4 gene, with nearly 90% of patients being hetero- or homozygous for (CTG)n expansion over 50 repeats. Furthermore, the severity of FECD was associated with the repeat length in the TCF4 gene. Ocular surgery might act as an environmental factor explaining the clinical disease in FECD without a repeat expansion in TCF4.

["The Big Five" - Cataract Surgery Under Multiple Ocular Comorbidity: Customised Approach to Prevent Complications]. / "The Big Five" ­ Kataraktchirurgie bei multiplen okulären Komorbiditäten: individuelle Vorgehensweise zur Komplikationsvermeidung.

The co-occurence of 5 diseases (cataract, Fuchs dystrophy, pseudoexfoliation syndrome, age-related macular degeneration and dry eye syndrome) can lead to massive impairment of visual acuity. Our case series show that cataract surgery can lead to an enormous profit in visual rehabilitation and therefore in daily routine.

Transplant rejection following endothelial keratoplasty and penetrating keratoplasty in the United Kingdom: incidence and survival.

PURPOSE: To investigate the incidence and outcome of cornea transplant rejection following endothelial keratoplasty (EK) and penetrating keratoplasty (PK) for Fuchs endothelial dystrophy (FED) and pseudophakic bullous keratopathy (PBK). DESIGN: Multicenter cohort study. METHODS: Patients registered on the United Kingdom Transplant Registry (UKTR) who had an EK or PK for FED or PBK between April 1, 2005 and March 31, 2011 were included. Data were collected from UKTR forms at 1 and 2 years. Postoperative steroid use varies between surgeons and cannot be captured in this reporting system. Rejection events were identified as those recorded as endothelial rejection. RESULTS: A total of 3486 corneal transplants were undertaken: 1973 for FED, 1513 for PBK. For FED, 2-year rejection-free survival was 93% (95% confidence interval [CI] 90%-94%) for PK and 94% (95% CI 92%-96%) for EK (P = .3). In transplants that had a rejection episode, 50% of PKs (17) and 60% of EKs (15) subsequently failed. For PBK, 2-year rejection-free survival for PK was 88% (95% CI 86%-90%) and 90% (95% CI 86%-92%) for EK (P = .6). In transplants that had a rejection episode, 85% of PKs (41) and 76% of EKs (22) subsequently failed. Inflammation (ie, conjunctival injection, presence of keratic precipitates and intraocular signs) at the time of surgery for patients with FED was significant for developing rejection: 3.5 times greater compared with those with no inflammation (P = .02). CONCLUSIONS: There is no significant difference in rejection-free survival between EK and PK for FED or PBK. The presence of inflammation is an important risk factor, and attention to its control before and following surgery is important.

Características clínicas de la distrofia corneal endotelial de Fuchs / Clinical characteristics of Fuchs' endothelial corneal dystrophy in families under study

OBJETIVOS: caracterizar clínicamente la distrofia corneal endotelial de Fuchs en las familias estudiadas. MÉTODOS: se realizó un estudio observacional, descriptivo y transversal en familias con distrofia de Fuchs, en el Instituto Cubano de Oftalmología "Ramón Pando Ferrer", del año 2008 al 2011. Se operacionalizaron variables como: estadio clínico de la enfermedad, amplitud de cámara anterior y ángulo iridocorneal, presión intraocular, longitud axial, paquimetría, densidad celular endotelial, pleomorfismo y polimegatismo. Se resumieron las variables utilizando frecuencias absolutas y relativas porcentuales. Para la relación entre densidad celular y paquimetría se hizo un análisis de correlación bivariado no paramétrico. RESULTADOS: los pacientes enfermos se encontraban en su mayoría en el estadio I y II, con 50 y 60 % para los recién diagnosticados y los ya conocidos respectivamente. La amplitud de la cámara anterior fue normal en el 51,9 %; el ángulo iridocorneal estrecho en el 55,6 %, la presión intraocular normal en el 66,7 % y una hipermetropía axial en el 55,6 % de los casos con distrofia corneal. No se encontró asociación significativa entre paquimetría y densidad celular, pero sí pleomorfismo y polimegatismo en el 100 % de los enfermos y en más del 50 % de los descendientes directos. CONCLUSIONES: las variables analizadas demuestran ser importantes a la hora de caracterizar la enfermedad, además de señalar daños endoteliales en descendientes no enfermos, aspecto a tener en cuenta para su seguimiento.

OBJECTIVE: to describe the clinical characteristics of Fuchs' endothelial corneal dystrophy in the families under study. METHODS: observational, descriptive and cross-sectional study of families with Fuchs' corneal dystrophy diagnosed at "Ramón Pando Ferrer" Cuban Institute of Ophthalmology from 2008 to 2011. The study variables were clinical stage of the disease, depth of anterior chamber and iridocorneal angle, intraocular pressure, axial length, corneal thickness, endothelial cell density, pleomorphism and polymegatism. The variables were summarized using percentage absolute and relative frequencies. For assessing the ratio of the cell density and pachymetry, a nonparametric bivariate correlation analysis was made. RESULTS: the patients with Fuchs' endothelial corneal dystrophy were mostly in the clinical stages I and II, accounting for 50 % of the newly diagnosed patients and 60 % of the previously known ones. The amplitude of the anterior chamber was normal in 51,9 %, the iridocorneal angle was narrow in 55,6 %. Intraocular pressure was normal in 66,7 % and axial hypermetropia was found in 55,6 % of cases with corneal dystrophy. No significant association was found between the corneal thickness and cell density, but it was between pleomorphism and polyimegathism in 100 % of patients and in more than 50 % of the direct descendants. CONCLUSIONS: the variables proved to be important in characterizing the disease as well as in pointing endothelial damages among non-sick descendants. This aspect should be considered on the follow-up period.

Study of factors for unsuitability of DSAEK in cases of corneal decompensation following cataract surgery.

To evaluate suitability of Descemet's stripping automated endothelial keratoplasty (DSAEK) in cases of corneal decompensation following cataract surgery. In this cross-sectional case series, 90 eyes of 90 patients were evaluated at a tertiary eye care centre. Cases with central corneal scarring or vascularisation, complicated aphakia with significant iris tissue defects and extensive synechaie or posterior segment pathology precluding visual recovery were classified as unsuitable for DSAEK. Of 90 eyes, 42 (46.67%) were unsuitable for DSAEK. Multivariate logistic regression analysis, revealed that patients presenting more than a year after cataract surgery had 7.5-fold odds of being unsuitable for DSAEK as compared with those who presented earlier(OR 7.5; CI 2.0-29.1). Patients with BCVA poorer than 0.06 at initial presentation had 5.0 times odds of being unsuitable for DSAEK (OR 5.0; CI 1.0-24.2). Patients who had prior non-phacoemulsification cataract surgery were 5.5 times less likely to be candidates for DSAEK as compared to those who had prior phacoemulsification (OR 5.5; CI 1.5-19.9) and those with anterior chamber IOL or aphakia were 5.0 times less likely suitable for DSAEK, in contrast to posterior chamber intraocular lenses (OR 5.0; CI 1.3-18.7). The type of cataract surgery, time to presentation and initial visual acuity play a role in determining the suitability of performing DSAEK in patients with corneal decompensation after cataract surgery.

Trends in the indications for corneal graft surgery in the United Kingdom: 1999 through 2009.

OBJECTIVE: To examine trends in the indications for corneal graft surgery in the United Kingdom. METHODS: National Health Service Blood and Transplant data were analyzed for keratoplasty operations performed in the United Kingdom between April 1, 1999, and March 31, 2009, distinguishing the type of graft and the surgical indication. RESULTS: The total number of annual keratoplasty operations increased from 2090 in 1999-2000 to 2511 in 2008-2009. Among these, the annual number of grafts performed for endothelial failure increased from 743 (35.6%) in 1999-2000 to 939 (37.4%) in 2008-2009. The performance of penetrating keratoplasty (PK) for endothelial failure decreased from 98.3% of all grafts in 1999-2000 to 46.6% of all grafts in 2008-2009, while the performance of endothelial keratoplasty increased from 0.3% of all grafts in 1999-2000 to 51.2% of all grafts in 2008-2009. The annual number of grafts performed for keratoconus increased from 514 (24.6%) in 1999 to 564 (22.5%) in 2008-2009. The performance of PK for keratoconus decreased from 88.4% of all grafts in 1999-2000 to 57.1% of all grafts in 2008-2009, while the performance of deep anterior lamellar keratoplasty increased from 8.8% of all grafts in 1999-2000 to 40.1% of all grafts in 2008-2009. The number of annual regraft operations increased from 249 (11.9%) in 1999-2000 to 401 (16.0%) in 2008-2009, most commonly for endothelial failure. In 2008-2009, PK regrafts (78.1%) far outnumbered endothelial keratoplasty regrafts (17.0%). CONCLUSIONS: Endothelial failure is the most common indication for keratoplasty in the United Kingdom, and endothelial keratoplasty is performed more commonly than PK for this indication. The number of grafts performed for pseudophakic bullous keratopathy has remained stable, while the number of grafts performed for Fuchs endothelial dystrophy is likely to continue increasing. Keratoconus is the second most common indication for keratoplasty, and deep anterior lamellar keratoplasty numbers are approaching those for PK. Regraft surgery is the third most common indication for keratoplasty, required in most cases because of endothelial failure.

Indications for penetrating keratoplasty and associated procedures, 2001-2005.

PURPOSE: To identify current indications and trends in indications for penetrating keratoplasty (PKP) and associated procedures. METHODS: Retrospective chart review of all patients who underwent PKP at Wills Eye Institute from January 1, 2001, to December 31, 2005. RESULTS: A total of 1,162 cases were performed in this 5-year period. Leading indications for PKP were pseudophakic corneal edema (PCE) in 330 (28.4%) cases, followed by regraft in 250 (22.0%), keratoconus in 186 (16%), and Fuchs' endothelial dystrophy in 126 (10.8%) cases. Of the 330 cases of PCE, 232 (70.3%) were associated with posterior chamber intraocular lenses (PCIOLs) and 96 (29.1%) with anterior chamber lenses. In 330 eyes with PCE, the lens was not exchanged in 246 (74.5%) cases and was exchanged in 76 (23%) cases. Seventy of the exchanged lenses were anterior chamber intraocular lenses (ACIOLs) and six lenses were PCIOLs. In cases of ACIOL exchanges, 10 were for scleral sutured IOLs, 18 for PCIOLS, and 42 for another ACIOL. CONCLUSIONS: Pseudophakic corneal edema remains the leading indication for PKP at our institution followed by regraft, continuing a trend noted in our previous studies. Although the percentage of cases of PCE associated with PCIOLS increased, fewer lenses were exchanged, perhaps reflecting increased confidence in biocompatibility of newer IOLs. The decrease in overall number of corneal transplants in these 5 years continues a trend noted in our previous study and mirrors the national decline in PKP.

[The French national waiting list for keratoplasty created in 1999: patient registration, indications, characteristics, and turnover]. / Bilan de la liste nationale d'attente de greffe de cornée française créée en 1999: taux d'inscription, flux, indications et caractéristiques des malades.

PURPOSE: To evaluate the French waiting list and the indications of registered patients, to compare the rates of registration, graft, and procurement between French regions. METHODS: In France, each patient with an indication for penetrating keratoplasty should be registered on the waiting list with his or her clinical characteristics. Those registered during 2000 and 2001 were included in the study. Data on transplantation activity from the waiting list were compared to data collected by a questionnaire on graft and procurement activities completed each year by medical teams. RESULTS: In 2000 and 2001, 6093 and 5505 waiting patients, respectively, were registered. For the same years, 3984 and 3457 keratoplasties were declared for the patients registered, but the questionnaires reported 4514 and 4388 grafts, respectively. The national registration rate was 96 per million population (pmp). The extreme values between regions ranged from 53 to 143 pmp. There was a significant correlation between regional procurement and transplantation rates (r=0.75, p=0.001) but not for registration and procurement rates, and not for registration and transplantation rates. The national registration rate was 27 pmp for pseudophakic and aphakic corneal edema, with extreme values of 12-64 pmp. The national registration rate was 24 pmp for keratoconus (11-37 pmp). A high patient turnover was observed between regions. Among the 11,598 patients registered, the most common indications were pseudophakic and aphakic corneal edema (27.7%), keratoconus (25.3%), and Fuchs'endothelial dystrophy (9.1%). Mean recipient age was 57+/-22 years (0-103 years). Among these patients, 14.1% had already received transplants at least once for the same eye (7.8% for keratoconus, 14.3% for pseudophakic and aphakic corneal edema, and 6.1% for Fuchs'dystrophy). DISCUSSION: Ophthalmologists will be able to register their patients directly on the waiting list, which will improve data quality for transplantation notification. Regional policies should be developed to decrease the inequalities of graft shortages between regions.