Although the most apparent clinical finding in aniridia is the absence of iris tissue, additional ocular structures are often affected. Mutations of the Pax 6 gene, which is important for eye development, have been identified in families with members affected by aniridia. Poor vision in aniridic eyes may be the result of macular hypoplasia, nystagmus, amblyopia, cataracts, glaucoma, and corneal disease, termed aniridic keratopathy. Advances in surgical techniques have improved management of some of the visually disabling manifestations of aniridia, but aniridic keratopathy remains a significant source of visual loss. We have conducted a large, retrospective study of patients with aniridia to gain information about the natural course of aniridic keratopathy. In this paper, we report the results of our study, as well as findings reported in the literature. Penetrating keratoplasty alone has not been a successful treatment for severe stromal scarring, as it does not treat the underlying epithelial causes of corneal disease. However, it has been successful in corneas that have achieved stable epithelium following limbal stem cell transplantation.
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The Triple Procedure in Patients with Congenital Aniridia.
J Clin Med
November 2024
Chair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, 65 Panewnicka Street, 40-760 Katowice, Poland.
Aniridia is a rare panocular, bilateral, and congenital disease characterized by complete or partial iris hypoplasia and foveal hypoplasia, leading to decreased visual acuity and nystagmus. AAK, also referred to as aniridic keratopathy, manifests as corneal surface damage, epithelial thinning or loss, inflammation with immune cell infiltration, vascularization, and chronic progressive opacification. Twenty-one eyes in eighteen patients with aniridia underwent the triple procedure for visual rehabilitation.
View Article and Find Full Text PDFReduction of lens size in PAX6-related aniridia.
Exp Eye Res
January 2024
Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France.
Heterozygous mutation of PAX6 in humans leads to congenital aniridia (OMIM 106210) which is typified by congenital iris and foveal defects, and later onset glaucoma, aniridic keratopathy, and cataract. Mice heterozygous for Pax6 mutations phenocopy many aspects of aniridia including the iris defects, keratopathy and cataract, although Pax6 mutant mice have small lenses, a phenotype which is not typically reported in human aniridia, perhaps due to difficulties in measuring lens diameter during typical ophthalmic examinations as the lens periphery is shielded by the iris. In order to overcome this, records of patients diagnosed with congenital aniridia between April 2015 and May 2021 at the Necker-Enfants Malades Hospital, and genetically confirmed with a disease-causing PAX6 variant, were retrospectively reviewed for those with normal axial length whose iris defects allowed visualization of the lens margins and corneal diameter to allow calculation of a lens/corneal diameter ratio.
View Article and Find Full Text PDFReport on the 2021 Aniridia North America symposium on PAX6, aniridia, and beyond.
Ocul Surf
July 2023
Aniridia North America, LaGrange, IL, 60525, USA; Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA.
The inaugural Aniridia North America (ANA) Symposium was held on the first weekend in November 2021 in Charlottesville, VA, at the University of Virginia. The purpose of this meeting was to bring together an international group of scientists, physicians, patient advocacy groups, and individuals with aniridia to discuss recent advances in knowledge about aniridia and other congenital eye diseases and the development of potential treatments for congenital eye disorders using personalized medicine. Leaders in several areas of eye research and clinical treatment provided a broad perspective on new research advances that impact an understanding of the causes of the damage to the eye associated with aniridia and the development of novel treatments for this and related disorders.
View Article and Find Full Text PDFClinical outcomes and visual prognostic factors in congenital aniridia.
BMC Ophthalmol
May 2022
Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL, 60611, USA.
Background: Evaluate outcomes and identify prognostic factors in congenital aniridia.
Methods: Retrospective interventional case series of patients with congenital aniridia treated between 2012-2020. Ocular examination and surgical details were collected.
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