Aniridia and the ocular surface: Medical and surgical problems and solutions
Autor: | S. López García, O. Gris Castejón, J.M. Benítez del Castillo, J.A. Durán de la Colina, J. Celis Sánchez, J. Álvarez de Toledo Elizalde, J.M. Herreras Cantalapiedra |
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Rok vydání: | 2020 |
Předmět: |
medicine.medical_specialty
business.industry medicine.medical_treatment Macular hypoplasia General Medicine Disease medicine.disease Regenerative medicine eye diseases Corneal Diseases Cornea Corneal Transplantation Artificial tears medicine.anatomical_structure Aniridia Ophthalmology medicine Quality of Life Humans sense organs PAX6 Stem cell Iris (anatomy) business |
Zdroj: | Archivos de la Sociedad Espanola de Oftalmologia. 96 |
ISSN: | 2173-5794 |
Popis: | Congenital aniridia is a multisystemic genetic disease due to a mutation in PAX6 gene which severely affects the development and functionality of the human eyes. In patients affected by the mutation, aside from the absence or defects of iris tissue formation, abnormalities in position or opacities of the crystalline lens, macular hypoplasia, ocular surface disease is the main cause of visual loss and the deterioration of the quality of life of most patients. Limbal stem cell deficiency combined with tear film instability and secondary dry eye cause aniridic keratopathy which, in advanced stages, ends up in corneal opacification. In this paper, the actual knowledge about congenital aniridia keratopathy physiopathology and medical and surgical treatment options and their efficacy are discussed. Indications and results of topical treatments with artificial tears and blood-derivatives in its initial stages, and different surgical techniques as limbal stem cell transplantation, keratoplasty and keratoprostheses are reviewed. Finally, recent advances and results in regenerative medicine techniques with ex vivo stem cell cultivation or other types of cultivated cells are presented. |
Databáze: | OpenAIRE |
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