Fuchs endothelial corneal dystrophy: an updated review.

PURPOSE: The present review will summarize FECD-associated genes and pathophysiology, diagnosis, current  therapeutic approaches, and future treatment perspectives. METHODS: Literature review. RESULTS: 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. CONCLUSION: 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.

Demographic profile and clinical course of Fuchs endothelial corneal dystrophy in Mexican patients.

PURPOSE: To describe the demographic characteristics and clinical course of Fuchs endothelial corneal dystrophy (FECD) in a Mexican-mestizo population. METHODS: A retrospective observational and longitudinal study was performed in consecutive patients with the clinical diagnosis of Fuchs endothelial corneal dystrophy seen at our institution. Initial and last follow-up best-corrected visual acuity, slit-lamp findings, and specular microscopy endothelial morphometric parameters were analyzed. RESULTS: One hundred and two eyes belonging to 51 patients were included in the analysis. Median age at the time of diagnosis was 69 years (range, 25-87 years) with a female-to-male ratio of 3.3:1. Visual loss (40%) followed by glare (13.3%) and fluctuating matutine vision loss (13.3%) was the most common complaints at presentation. Regarding FECD staging, 65 (63.7%) were classified as stage-I FECD, 21 (20.6%) stage-II, and 15 (14.7%) as stage-III. A high percentage of eyes (44.1%) presented visual impairment ( ≤ 20/50) at presentation, and the presence of isolated corneal guttata was the most common stage of presentation (64%) at slit-lamp examination. While fifty-nine (57.8%) eyes did not require any medical or surgical management, 17 (16.7%) eyes were managed with hypertonic saline eyedrops alone or in combination with bandage contact lens, and 18 (17.6%) required corneal transplantation. Penetrating keratoplasty alone (8 eyes, 44.4%), or in combination with cataract extraction and intraocular lens implantation (3 eyes, 16.7%), was the most frequent surgical technique performed. CONCLUSION: Demographical characteristics of Fuchs dystrophy regarding age at presentation, gender distribution, and clinical stage at the time of diagnosis did not differ significantly from other international reports. Almost 20% of these patients will require keratoplasty during the disease, emphasizing the need for safer and more reproducible keratoplasty techniques.

Estudio generacional en familias con distrofia corneal endotelial de Fuchs / Generational study conducted in families with Fuchs' endotelial corneal dystrophy

OBJETIVOS: identificar la presencia de rasgos clínicos de distrofia corneal endotelial de Fuchs en familiares de pacientes con este diagnóstico. MÉTODOS: se realizó un estudio observacional, descriptivo y transversal de 15 familias trigeneracionales de pacientes con distrofia corneal endotelial de Fuchs, captados en consulta de córnea del Instituto cubano de Oftalmología "Ramón Pando Ferrer" del año 2008 al 2011. La muestra quedó constituida por un total de 78 pacientes. Se utilizaron planillas de recolección de datos para estudiar las siguientes variables de interés: gutas corneales según grados, clasificación clínica, edad, sexo y grado de parentesco según árbol genealógico familiar. Se resumieron las variables cualitativas utilizando frecuencias absolutas y relativas porcentuales. RESULTADOS: del total de descendientes directos, el 44,1 % presentó gutas en su córnea. El 34,6 % de los pacientes estudiados presentaron la enfermedad y el 23,1 % córnea guttata. La distrofia y la córnea guttata se constataron más en el sexo femenino, con mayor incidencia en mayores de 60 años para los primeros. Los descendientes del primer nivel evidenciaron más afectación corneal que los de segundo nivel, con el 75,9 y el 23,5 % respectivamente. Todas las familias presentaron miembros afectados en su descendencia. CONCLUSIONES: la mayor parte de las familias de pacientes con distrofia corneal endotelial de Fuchs presentan cambios endoteliales en las córneas, por lo que estas deben ser incluidas en el estudio con fines diagnósticos y preventivos.

OBJECTIVE: to identify clinical features of Fuchs' endothelial corneal dystrophy in relatives of patients with this diagnosis. METHODS: bservational, descriptive and transversal study of 15 three- generation families of those patients with Fuchs' endothelial corneal dystrophy who went to the cornea consultation of the "Ramón Pando Ferrer", Cuban Institute of Ophthalmology from 2008 to 2011. The sample was made up of 78 patients. Data collection forms were used to study the following variables of interest: Cornea Guttata by degree, clinical classification, age, sex and degree of relationship as family tree. Qualitative variables were summarized using percentage absolute and relative frequencies. RESULTS: of the total number of direct descendants, 44,1 % had cornea guttata; 34,6 % of the patients presented with Fuchs' endothelial corneal dystrophy and 23,1 % of them had cornea guttata. Dystrophy and cornea guttata were found more frequently in females, with the highest incidence of the former in patients over 60 years. First degree descendants showed more corneal involvement than the second degree ones (75,9 and 23,5 %, respectively). All the families had offspring affected by the disease. CONCLUSIONS: most of the members of the families suffered corneal endothelial changes, so they should be included in the study for diagnostic and preventive purposes.