Expanding the Phenotypic Spectrum of <i>PAX6</i> 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 <i>PAX6</i> gene. The clinical phenotype of <i>PAX6</i> mutations is highly variable, making the genotype–phenotype correlation...
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| Format: | Article |
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MDPI AG
2021-05-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/5/707 |
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| author | Maria Nieves-Moreno Susana Noval Jesus Peralta María Palomares-Bralo Angela del Pozo Sixto Garcia-Miñaur Fernando Santos-Simarro Elena Vallespin |
| author_facet | Maria Nieves-Moreno Susana Noval Jesus Peralta María Palomares-Bralo Angela del Pozo Sixto Garcia-Miñaur Fernando Santos-Simarro Elena Vallespin |
| author_sort | Maria Nieves-Moreno |
| collection | DOAJ |
| description | Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the <i>PAX6</i> gene. The clinical phenotype of <i>PAX6</i> 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 <i>PAX6</i>, 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. |
| first_indexed | 2024-03-10T11:35:34Z |
| format | Article |
| id | doaj.art-58b32784df0848c8aea483351bda975d |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T11:35:34Z |
| publishDate | 2021-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-58b32784df0848c8aea483351bda975d2023-11-21T18:54:36ZengMDPI AGGenes2073-44252021-05-0112570710.3390/genes12050707Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to NystagmusMaria Nieves-Moreno0Susana Noval1Jesus Peralta2María Palomares-Bralo3Angela del Pozo4Sixto Garcia-Miñaur5Fernando Santos-Simarro6Elena Vallespin7Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, SpainDepartment of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, SpainDepartment of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, SpainDepartment of Molecular Developmental Disorders, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, SpainDepartment of Bioinformatics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, SpainDepartment of Clinical Genetics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, SpainDepartment of Clinical Genetics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, SpainDepartment of Molecular Ophthalmology, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, SpainBackground: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the <i>PAX6</i> gene. The clinical phenotype of <i>PAX6</i> 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 <i>PAX6</i>, 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.https://www.mdpi.com/2073-4425/12/5/707<i>PAX6</i>aniridiacongenital cataractsnystagmus |
| spellingShingle | Maria Nieves-Moreno Susana Noval Jesus Peralta María Palomares-Bralo Angela del Pozo Sixto Garcia-Miñaur Fernando Santos-Simarro Elena Vallespin Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus Genes <i>PAX6</i> aniridia congenital cataracts nystagmus |
| title | Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus |
| title_full | Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus |
| title_fullStr | Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus |
| title_full_unstemmed | Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus |
| title_short | Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus |
| title_sort | expanding the phenotypic spectrum of i pax6 i mutations from congenital cataracts to nystagmus |
| topic | <i>PAX6</i> aniridia congenital cataracts nystagmus |
| url | https://www.mdpi.com/2073-4425/12/5/707 |
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