Congenital Aniridia and the Ocular Surface.

Aniridia is a congenital pan-ocular disorder caused by haplo-insufficiency of Pax6, a crucial gene for proper development of the eye. Aniridia affects a range of eye structures, including the cornea, iris, anterior chamber angle, lens, and fovea. The ocular surface, in particular, can be severely affected by a progressive pathology termed aniridia-associated keratopathy (AAK), markedly contributing to impaired vision.

Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia.

Unlabelled: Aniridia is a rare congenital genetic disorder caused by haploinsuffiency of the PAX6 gene, the master gene for development of the eye. The expression of tear proteins in aniridia is unknown. To screen for proteins involved in the aniridia pathophysiology, the tear fluid of patients with diagnosed congenital aniridia was examined using two-dimensional electrophoresis (2-DE) and liquid chromatography-tandem mass spectrometry (LC-MS/MS).

In vivo morphology of the limbal palisades of vogt correlates with progressive stem cell deficiency in aniridia-related keratopathy.

Purpose: To investigate morphologic alterations in the limbal palisades of Vogt in a progressive form of limbal stem cell deficiency.

Methods: Twenty Norwegian subjects (40 eyes) with congenital aniridia and 9 healthy family members (18 eyes) without aniridia were examined. Clinical grade of aniridia-related keratopathy (ARK) was assessed by slit-lamp biomicroscopy, and tear production and quality, corneal thickness, and sensitivity were additionally measured.

Pathologic epithelial and anterior corneal nerve morphology in early-stage congenital aniridic keratopathy.

Objective: To document the clinical and morphologic corneal findings in the early stages of congenital aniridic keratopathy in Swedish families.

Design: Prospective, observational, comparative case series.

Participants: A total of 16 eyes of 16 subjects with congenital aniridic keratopathy and a clear central cornea, and 6 eyes from 6 healthy controls (unaffected relatives).

Corneal involvement in congenital aniridia.

Purpose: The purpose of this research is 2-fold. First of all, the level of keratopathy development in patients with congenital aniridia is studied. In addition, a correlation between the effects of ocular surgery on the severity of keratopathy is made.

Epidemiology of aniridia in Sweden and Norway.

Purpose: To investigate the epidemiology of aniridia in the populations of Sweden and Norway.

Methods: A thorough search for aniridia patients has been performed in Sweden and Norway. All participants had a clinical ophthalmological examination documented through photography.

Aniridia among children and teenagers in Sweden and Norway.

Purpose: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of aniridia, to describe clinical signs and identify complications in the young, which will help improve diagnostic tools and treatment.

Methods: A thorough search for patients with aniridia (of all ages) was performed. Sixty-two of the 181 patients were under the age of 20.