Rare Eye Diseases are the Leading Cause of Untreatable Blindness in Europe and Affect People of all ages. The restore vision scientific team has identified Seven Rare Ocular Conditions that Impact The Cornea and the Rest of the Ocular Surface. “With a comprehensive approval, we aim to restore the normal function of the immune, vascular, and nervous systems of the ocular surface by studying existing drun Treatments, “Says Juana Gallar, A Professor at Umh Who Leads The Project and the Ocular Neurobiology Laboratory at the in.

Among these seven rare diseases is aniridia, which affects one in every 80,000 people and is characterized by the partial or complete absence of the iris. In Most Cases, It Results from a Mutation in the PAX6 Gene, Preventing Proper Eye Development during during Gestation. In addition to photophobia and glare sensitivity, aniridia can lead to blindness and other complications such as cataracts, glaucoma, or corneal abnormalities.

“Aniridia means ‘Lack of Iris,’ but it is actually a disease that affects multiple parts of the eye,” Explains M. Carmen Accosta, A Professor at Umh and A Researcher in the Project.

Currently, there is no cure for aniridia, and existing treatment only address specific symptoms. Early intervention is crucial, with a focus on visual stimulation during childhood. Later, Special Lenses Help Reduce Photophobia and Glare, While in Some Cases of Partial Aniridia, Surgical Implants of Artificial Irises May Be Used.

“Unfortunately, aniridia cannot be prevented, so efforts are focused on development

In addition to aniridia and neurotrophic keratopathy, Restore Vision is Studying five other rare diseases affect the Ocular Surface: Ocular Cicatricial PEMPHIGOID, An Autoimmune Disease TFC Mucous Membranes of the Mouth and the Eye’s Surface; ectrodactyly-ectodermal dysplasia-calfting (EEC) Syndrome, which involves malformations of the tear ducts, Along with photophobia and corneal ulcers; Graft-Versus-Host Disease (GVHD), A Complication of Allogenic Transplants that Manifests in the Eyes, often Causing Dry Eye Disease; Limbal Stem Cell Deficiency (LSCD), which prevents the renewal of the corneal epithelium, eventually leading to incurable corneal damage; And corneal neovascularization, a process in which blood vessels developed abnormally in the cornea, which is normally avascular, leading to information and vision loss.

Recent Research from this laberatory is providing key insights that could be crucial for the restore vision project. In a study published in Acta ophthalmologistResearchers have described the characteristics of two subpopulation of cold-sensitive trigeminal neurons that innervate the cornea. These neurons, classified as high and low basal activity, play a crucial role in detecting temperature changes on the eye’s surface and may be involved in regulating in regulating Tear production.

“Understanding how these neurons function is essential to determine how they are affected in diseases that impair corneal sensitivity, such as neurotrophic keratopathy. Treatments aimed at restoring nerve function in patients with rare eye dissees, “Explains Aridna Díaz Tahoces, Lead Author of the publication.

The ocular neurobiology laboratory has also developed A new method to study nerve regeneration in the corneaUsing a lasser, they have been able to create small, controlled lesions in the corneal nerve fibers of adult Mice to then analyze their regeneration. In their experiences, they discovered that in mice lacking the Sarm1 Protein, Responsible for Nerve Degeneration after injury, nerves take longer to deteriorte, but their regenerative capacity is almo.

“This model allows us to study, in living mammals, how nerves recover an injury and bill contribute to undersrstanding what Haappens in rare diseases that affect corneal innervation, ultimaately aiding in the Development of New Treatments, “Explains Almudena íigo Portugués, Lead Author of the Study.

The restore vision project is Making Progress in Developing New Drug Formulations and Identifying Existing Medications that count be used to treat rare eyesases. Clinical Documents are currently being finalized for Submission to Ethics Committees and Regulatory Authorities, Bringing The Project Closer to the Possibility of Treating The first Patients with the first parts of the patient Using Restore Vision Therapies.

The Institute for Neurosciences UMH-CSIC will play a Crucial Role in Everaluating Topical Therapies for Corneal Regence. “Our work focuses on identifying therapeutic targets in cells and conducting preclinical studies before moving on to Clinical trials,” EXPLAINS GALLAR.

Once the trees are validated, the consortium will establish clinical protocols and formulate legislative recommendations to accessible access to these medical innovations.