Article
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.
Progress in retinal and eye research - 1 Jul 2023
Daruich Alejandra, Duncan Melinda, Robert Matthieu P, Lagali Neil, Semina Elena V, Aberdam Daniel, Ferrari Stefano, Romano Vito, des Roziers Cyril Burin, Benkortebi Rabia, De Vergnes Nathalie, Polak Michel, Chiambaretta Frederic, Nischal Ken K, Behar-Cohen Francine, Valleix Sophie, Bremond-Gignac Dominique
Abstract excerpt
Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively been shown to be associated with other developmental ocular abnormalities and systemic features making congenital aniridia a complex syndromic disorder rather than a simple isolated disease of the iris. Moreover, foveal hypoplasia is now recognized as a more frequent feature than complete iris hypoplasia and a major...
Topics
- Humans
- PAX6 Transcription Factor
- Aniridia
- Eye Abnormalities
- Mutation
- Phenotype
- Eye Proteins