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Congenital aniridia...
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches
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- Daruich, Alejandra (author)
- Paris Cite Univ, France; Sorbonne Paris Cite Univ, France
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- Duncan, Melinda (author)
- Univ Delaware, DE USA
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- Robert, Matthieu P. (author)
- Paris Cite Univ, France; Paris Cite Univ, France
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- Lagali, Neil (author)
- Linköpings universitet,Avdelningen för sinnesorgan och kommunikation,Medicinska fakulteten,Sorlandet Hosp Arendal, Norway
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- Semina, Elena V. (author)
- Med Coll Wisconsin, WI 53226 USA
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- Aberdam, Daniel (author)
- Sorbonne Paris Cite Univ, France
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- Ferrari, Stefano (author)
- Fdn Banca Occhi Veneto, Italy
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- Romano, Vito (author)
- Univ Brescia, Italy
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- des Roziers, Cyril Burin (author)
- Sorbonne Paris Cite Univ, France; Ctr Univ Paris, France
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- Benkortebi, Rabia (author)
- Paris Cite Univ, France
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- De Vergnes, Nathalie (author)
- Paris Cite Univ, France
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- Polak, Michel (author)
- Pediatric Endocrinology, Gynecology and Diabetology, Hôpital Universitaire Necker Enfants Malades, Paris Cité University, INSERM, France
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- Chiambaretta, Frederic (author)
- Department of Ophthalmology, CHU Gabriel Monpied, Clermont-Ferrand, France
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- Nischal, Ken K. (author)
- Division of Pediatric Ophthalmology, Strabismus, and Adult Motility, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; UPMC Eye Center, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
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- Behar-Cohen, Francine (author)
- Sorbonne Paris Cite Univ, France
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- Valleix, Sophie (author)
- Sorbonne Paris Cite Univ, France; Ctr Univ Paris, France
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- Bremond-Gignac, Dominique (author)
- Paris Cite Univ, France; Sorbonne Paris Cite Univ, France
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(creator_code:org_t)
- PERGAMON-ELSEVIER SCIENCE LTD, 2023
- 2023
- English.
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In: Progress in retinal and eye research. - : PERGAMON-ELSEVIER SCIENCE LTD. - 1350-9462 .- 1873-1635. ; 95
- Related links:
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https://liu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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 visual prognosis determinant, reversing the classical clinical picture of this disease. Conversely, iris malformation is also a feature of various anterior segment dysgenesis disorders caused by PAX6-related developmental genes, adding a level of genetic complexity for accurate molecular diagnosis of aniridia. Therefore, the clinical recognition and differential genetic diagnosis of PAX6-related aniridia has been revealed to be much more challenging than initially thought, and still remains under-investigated. Here, we update specific clinical features of aniridia, with emphasis on their genotype correlations, as well as provide new knowledge regarding the PAX6 gene and its mutational spectrum, and highlight the beneficial utility of clinically implementing targeted Next-Generation Sequencing combined with Whole-Genome Sequencing to increase the genetic diagnostic yield of aniridia. We also present new molecular mechanisms underlying aniridia and aniridia-like phenotypes. Finally, we discuss the appropriate medical and surgical management of aniridic eyes, as well as innovative therapeutic options. Altogether, these combined clinical-genetic approaches will help to accelerate time to diagnosis, provide better determination of the disease prognosis and management, and confirm eligibility for future clinical trials or genetic-specific therapies.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Keyword
- Congenital aniridia; Foveal hypoplasia; PAX6; Next-generation sequencing; Whole-genome sequencing; Gene therapy
Publication and Content Type
- ref (subject category)
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- By the author/editor
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Daruich, Alejand ...
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Duncan, Melinda
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Robert, Matthieu ...
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Lagali, Neil
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Semina, Elena V.
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Aberdam, Daniel
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Ferrari, Stefano
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Romano, Vito
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des Roziers, Cyr ...
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Benkortebi, Rabi ...
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De Vergnes, Nath ...
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Polak, Michel
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Chiambaretta, Fr ...
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Nischal, Ken K.
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Behar-Cohen, Fra ...
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Valleix, Sophie
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Bremond-Gignac, ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Ophthalmology
- Articles in the publication
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Progress in reti ...
- By the university
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Linköping University