Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.
Genes (Basel)
; 12(5)2021 05 09.
Article
in En
| MEDLINE
| ID: mdl-34065151
ABSTRACT
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Cataract
/
Aniridia
/
Corneal Dystrophies, Hereditary
/
Nystagmus, Congenital
/
PAX6 Transcription Factor
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Genes (Basel)
Year:
2021
Document type:
Article
Affiliation country:
Spain