This is a starting reference for research on Aniridia. If you have research references that you wish to add, please contact us.
Research Articles on Aniridia (2003-2023)
2023
- Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
- Human Genomics
- Link
- Lived experience perspectives on genetic testing for a rare eye disease
- Journal of Community Genetics
- Link
- A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD
- BMC Medical Genomics
- Link
- The genetics of aniridia — simple things become complicated
- Journal of Applied Genetics
- Link
2022
- Congenital aniridia – A comprehensive review of clinical features and therapeutic approaches
- Survey of Ophthalmology
- Link
- Diagnosis and Management of Aniridia
- American Academy of Ophthalmology
- Link
2021
- Experimental Eye Research – Pax6
- Experimental Eye Research
- Link
2020
- A Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia
- Thieme Connect
- Link
2019
- Genetics and epidemiology of aniridia: Updated guidelines for genetic study
- ScienceDirect
- Link
2018
- Aniridia-related keratopathy and its surgical management
- Investigative Ophthalmology & Visual Science
- Link
2017
- Molecular mechanisms underlying aniridia
- Molecular Vision
- Link
2016
- Clinical outcomes in aniridia patients undergoing keratoplasty
- Cornea
- Link
2015
- Genetic and phenotypic diversity in aniridia cases
- American Journal of Medical Genetics
- Link
2014
- Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects
- Journal of Clinical Investigation
- Link
2013
- Comprehensive analysis of PAX6 mutations in aniridia patients
- Molecular Pathology
- Link
2012
- Impact of aniridia on visual function and quality of life
- British Journal of Ophthalmology
- Link
2011
- Genotype-phenotype correlations in PAX6 mutations
- Human Mutation
- Link
2010
- Surgical outcomes in congenital aniridia patients
- Journal of Pediatric Ophthalmology and Strabismus
- Link
2009
- Novel therapeutic approaches for aniridia
- Expert Opinion on Orphan Drugs
- Link
2008
- Autosomal dominant inheritance patterns in aniridia
- Genetics in Medicine
- Link
2007
- Current trends in aniridia research
- Clinical Genetics
- Link
2006
- Aniridia: clinical presentation and management strategies
- Current Opinion in Ophthalmology
- Link
2005
- Emerging genetic therapies for aniridia
- Trends in Molecular Medicine
- Link
2004
- Identification of novel PAX6 mutations in aniridia patients
- Genetics in Medicine
- Link
2003
- Aniridia and its associated systemic conditions
- Orphanet Journal of Rare Diseases
- Link