Active clinical trials for "Corneal Dystrophies, Hereditary"

The cornea forms our "window to the world". Hence, its transparency is of utmost importance for vision. Corneal endothelium plays a central role in the maintenance of a transparent corneal stroma. It limits stromal fluid uptake from the anterior chamber of the eye through the formation of tight junctions. Simultaneously, fluid is actively transported from corneal stroma into the anterior chamber. This maintains the corneal stroma in a state of relative dehydration, thereby ensuring a constant distance of stromal collagen lamellae to each other, which in turn forms the basis for transparency of this tissue. If however corneal endothelial function is impaired, stromal swelling leads to corneal clouding and loss of vision. Fuchs endothelial corneal dystrophy represents the most common form of corneal dystrophy. It occurs sporadically, however in some cases autosomal dominant inheritance has been described. This condition leads to progressive loss of corneal endothelium (typically around the age of 50-60 years), causing visual impairment due to swelling and opacification of corneal stroma. Cell culture experiments have been able to show that chemical inhibitors of Rho-Kinase promote corneal endothelial cell proliferation and reduce apoptosis, while topical application in an animal model promoted corneal endothelial wound healing. This has prompted the notion of using topical Rho-kinase-inhibitor treatment to support endothelial cell regeneration in Fuchs endothelial corneal dystrophy. Since September 2014, Rho-kinase-inhibitor eye drops (ripasudil) are clinically available in Japan for reduction of intraocular pressure in Glaucoma patients. Ripasudil eye drops therefore represent a strong candidate for safe and effective adjunctive treatment in patients with Fuchs corneal endothelial cell dystrophy.

Transplantation of cellularized human cornea impregnated and populated by mesenchymal stem cells derived from the patient's adipose tissue. The purpose of the study is to assess the safety, tolerability, and preliminary efficacy of transplantation of a single dose of autologous mesenchymal adipose tissue derived adult stem cells (ADAS) cellularized into laminas for subjects with corneal defects. 3 groups will be included in the study: (1) transplantation of ADAS alone without scaffold, (2) transplantation of scaffold (human corneal decellularized lamina) without ADAS, and (3) transplantation of ADAS cellularized on scaffold (the human corneal decellularized lamina)

The investigators will evaluate 30 patients with surgical indication for corneal transplantation. Participants will be divided according to the following diseases diseases: keratoconus, bullous keratopathy, corneal dystrophies. Participants will be informed about the risks and benefits of the study and sign an informed consent form. In the preoperative evaluation will be submitted to a complete ophthalmologic examination with complementary tests, such as optical coherence tomography. One group of participants will undergo corneal surgery using the OCT Lumera microscope RESCAN - ZEISS and another group with a conventional microscope. Everyone will have their filmed and documented surgery. The team of surgeons will answer the questionnaire on the surgical difficulty about the ease of assessing corneal transplantation. After surgery, participants will be assessed on days 1, 7,15, 30, 60, 90 and 180 after surgery. Surgeries and study procedures will be performed by the same team of surgeons and performed by IPEPO - Paulista Institute of Studies and Research in Ophthalmology / Vision Institute.

Corneal transplant is a surgical procedure where a damaged or diseased cornea is replaced by donated corneal tissue (the graft) in its entirety (penetrating keratoplasty) or in part (lamellar keratoplasty). One type of lamellar keratoplasty is DSAEK (Descemet's Stripping Automated Endothelial Keratoplasty), where only the damaged posterior section of the cornea is replaced. The purpose of this study is to investigate how immediate postoperative positioning of the patient affects the dislocation rate of the corneal graft. Since this is a new surgical method, little scientific documentation has been published in this area.

Fuchs endothelial corneal dystrophy (FECD) is a progressive disease characterized by the loss of endothelial cells, thickening of Descemet's membrane and deposition of extracellular matrix in the form of guttae. This result in failure of the endothelium to support corneal deturgescence leading to corneal edema. Affected patients complain about blurred vision at early stages of the disease which can progress to blindness. The pathophysiology of the disease is still unclear, but several studies point towards a genetic susceptibility. Additional risk factors that have been identified are female sex, smoking and older age. While for a long time penetrating keratoplasty (PKP) was the only therapy available for affected patients, in the recent years less invasive methods such as descemet's membrane endothelial keratoplasty (DMEK) have been developed. In DMEK, only the Descemet's membrane and the endothelium is removed and replaced with the corresponding parts from a donor's cornea. For FECD, this brings the advantage that only the diseased part of the cornea is replaced. Graft detachment has been identified as the main complication following DMEK. In the investigators' study, an ultra high resolution OCT system will be used to detect graft detachment in patients with FECD after DMEK. With this technique, even small detachments can be visualized. The area of graft detachment will be evaluated at predefined time points after surgery and correlated to visual acuity. A follow-up of one year will be performed in order to investigate the predictive value of graft adherence status at several time points for visual outcome.

The purpose of this study is evaluate the outcome after posterior lamellar keratoplasty (DMEK and Ultra-thin DSAEK) for corneal transplantation.

Penetrating keratoplasty (PKP) is an open-sky surgery that fundamentally has not changed for more than 100 years. Because conventional PKP is associated with the potential for the development of devastating complications such as expulsive suprachoroidal hemorrhage and endophthalmitis, we modified the technique to one that is a closed surgery under topical anesthesia with the anterior chamber maintained to achieve favorable results. Topical anesthesia is an attractive alternative to traditional injection local anesthesia since the potentially serious complications associated with retrobulbar and peribulbar anesthesia can be avoided. The closed PKP procedure with the stable anterior chamber essentially changes the open nature of conventional PKP. The advantages, i.e., decreased surgical risks, postoperative complications, and surgical difficulties, make PKP viable in most complicated cases.

The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy (FECD)) is beginning to be dismembered. One of the most common genetic anomalies is a triplet repetition in one of the introns of the Transcription Factor 4 (TCF4) gene located on chromosome 18. However, the number of repetitions varies greatly from one patient to another.

The purpose of this study is to gain further insights into the molecular pathogenesis of Fuchs' endothelial corneal dystrophy (FECD), to identify targets for potential specific drug therapy.

This study will be used to support assessment of AIR OPTIX® NIGHT & DAY® AQUA (AONDA) Soft Contact Lenses' safety and performance in accordance with updated European Union Medical Device Regulation (EU MDR) requirements.