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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8151272 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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