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Aniridia and the ocular surface: Medical and surgical problems and solutions
J Álvarez de Toledo Elizalde1, S López García2, J M Benítez Del Castillo3
1Departamento de Segmento Anterior, Centro de Oftalmología Barraquer, Barcelona, Spain.
Archivos De La Sociedad Espanola De Oftalmologia
|November 27, 2021
Summary
Congenital aniridia, a PAX6 gene mutation, causes severe vision loss due to ocular surface disease and aniridic keratopathy. Treatments range from topical therapies to advanced regenerative medicine for improved patient quality of life.
Area of Science:
- Ophthalmology
- Genetics
- Regenerative Medicine
Background:
- Congenital aniridia is a genetic disorder caused by PAX6 gene mutations, impacting eye development and function.
- Key ocular manifestations include iris defects, lens abnormalities, macular hypoplasia, and ocular surface disease, leading to significant vision loss.
- Aniridic keratopathy, characterized by limbal stem cell deficiency and dry eye, can progress to corneal opacification.
Purpose of the Study:
- To review current knowledge on the physiopathology of congenital aniridia keratopathy.
- To discuss the efficacy of existing medical and surgical treatment options.
- To present recent advances in regenerative medicine for aniridia.
Main Methods:
- Review of literature on congenital aniridia keratopathy.
- Analysis of topical treatments (artificial tears, blood derivatives).
- Evaluation of surgical interventions (stem cell transplantation, keratoplasty, keratoprostheses) and regenerative medicine techniques.
Main Results:
- Initial stages benefit from topical treatments; advanced stages require surgical intervention.
- Surgical options include limbal stem cell transplantation, keratoplasty, and keratoprostheses.
- Regenerative medicine, including ex vivo stem cell cultivation, shows promise.
Conclusions:
- Congenital aniridia necessitates a multifaceted treatment approach.
- Effective management of aniridic keratopathy is crucial for preserving vision and quality of life.
- Regenerative medicine offers novel therapeutic avenues for aniridia patients.
Keywords:
Aniridia congénitaCongenital aniridiaCultivo de células madre epitelialesCultivo de células mesenquimalesKeratopathyKeratoplastyKeratoprosthesesLimbal stem cell cultureLimbal stem cell transplantationMesenchymal cell cultureQueratopatíaQueratoplastiaQueratoprótesisTrasplante de células madre limbares
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