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Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype–phenotype correlations difficult to establish. Methods: we...

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Autores principales: Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151272/
https://www.ncbi.nlm.nih.gov/pubmed/34065151
http://dx.doi.org/10.3390/genes12050707
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author Nieves-Moreno, Maria
Noval, Susana
Peralta, Jesus
Palomares-Bralo, María
del Pozo, Angela
Garcia-Miñaur, Sixto
Santos-Simarro, Fernando
Vallespin, Elena
author_facet Nieves-Moreno, Maria
Noval, Susana
Peralta, Jesus
Palomares-Bralo, María
del Pozo, Angela
Garcia-Miñaur, Sixto
Santos-Simarro, Fernando
Vallespin, Elena
author_sort Nieves-Moreno, Maria
collection PubMed
description Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype–phenotype correlations difficult to establish. Methods: we describe the phenotype of eight patients from seven unrelated families with confirmed mutations in PAX6, and very different clinical manifestations. Results: Only two patients had the classical aniridia phenotype while the other two presented with aniridia-related manifestations, such as aniridia-related keratopathy or partial aniridia. Congenital cataracts were the main manifestation in three of the patients in this series. All the patients had nystagmus and low visual acuity. Conclusions: The diagnosis of mild forms of aniridia is challenging, but these patients have a potentially blinding hereditary disease that might present with a more severe phenotype in future generations. Clinicians should be aware of the mild aniridia phenotype and request genetic testing to perform an accurate diagnosis.
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spelling pubmed-81512722021-05-27 Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus Nieves-Moreno, Maria Noval, Susana Peralta, Jesus Palomares-Bralo, María del Pozo, Angela Garcia-Miñaur, Sixto Santos-Simarro, Fernando Vallespin, Elena Genes (Basel) Article Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype–phenotype correlations difficult to establish. Methods: we describe the phenotype of eight patients from seven unrelated families with confirmed mutations in PAX6, and very different clinical manifestations. Results: Only two patients had the classical aniridia phenotype while the other two presented with aniridia-related manifestations, such as aniridia-related keratopathy or partial aniridia. Congenital cataracts were the main manifestation in three of the patients in this series. All the patients had nystagmus and low visual acuity. Conclusions: The diagnosis of mild forms of aniridia is challenging, but these patients have a potentially blinding hereditary disease that might present with a more severe phenotype in future generations. Clinicians should be aware of the mild aniridia phenotype and request genetic testing to perform an accurate diagnosis. MDPI 2021-05-09 /pmc/articles/PMC8151272/ /pubmed/34065151 http://dx.doi.org/10.3390/genes12050707 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Nieves-Moreno, Maria
Noval, Susana
Peralta, Jesus
Palomares-Bralo, María
del Pozo, Angela
Garcia-Miñaur, Sixto
Santos-Simarro, Fernando
Vallespin, Elena
Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus
title Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus
title_full Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus
title_fullStr Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus
title_full_unstemmed Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus
title_short Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus
title_sort expanding the phenotypic spectrum of pax6 mutations: from congenital cataracts to nystagmus
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151272/
https://www.ncbi.nlm.nih.gov/pubmed/34065151
http://dx.doi.org/10.3390/genes12050707
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