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Ocul Surf. 2020 Jan;18(1):130-140. doi: 10.1016/j.jtos.2019.11.002. Epub 2019 Nov 14.

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations.

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Department of Ophthalmology, Institute for Clinical and Experimental Medicine, Faculty of Health Sciences, Linkoping University, Linköping, Sweden; Department of Ophthalmology, Sørlandet Hospital Arendal, Arendal, Norway. Electronic address:
Clinical Department of Ophthalmology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, Poland.
Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes UKS, Homburg, Germany.
Department of Ophthalmology, Sørlandet Hospital Arendal, Arendal, Norway; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.



To investigate corneal phenotype in aniridia-associated keratopathy (AAK) including its earliest manifestations, in relation to PAX6 mutational status.


46 subjects (92 eyes) with congenital aniridia from a German registry were examined using slit lamp biomicroscopy, anterior segment optical coherence tomography, contact esthesiometry and in vivo confocal microscopy. Cytogenetic analysis was conducted by Sanger sequencing of PAX6 exons and/or MLPA analysis. Measured parameters included AAK grade, distance-corrected visual acuity (DCVA), central corneal thickness (CCT), corneal sensitivity, subbasal nerve density, mature dendritic cell (DC) density and corneal epithelial phenotype.


46 subjects (age range: 1-64 years) were examined, including 23 (50%) children under the age of 18. Five subjects (11.1%) with absent PAX6 coding mutation (non-PAX6 cases) had mild AAK (Grade 0-1) into the fourth decade of life and maintained corneal epithelial phenotype, greater subbasal nerve density (16.8 mm/mm2 vs. 3.58 mm/mm2, P = 0.01) and better corneal sensitivity (41 ± 11 mm vs. 28 ± 12 mm, P = 0.03) relative to those with PAX6 coding mutations. In five subjects, corneal endothelial cell density ranged from 3245 to 4399 cells/mm2. Independent of mutational status, an increased CCT, over tenfold increased mature DC density and reduced corneal sensitivity characterized all subjects.


PAX6 coding mutations influence AAK phenotype and progression from the earliest stages of life. A minimal keratopathy present in 100% of congenital aniridia cases is independent of the specific mutation and consists of increased corneal thickness, reduced touch sensitivity, and increased ocular surface immune activity.


Aniridia; Aniridia-associated keratopathy; Cornea; Limbal stem cell deficiency; PAX6

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Conflict of interest statement

Declaration of competing interest No conflicting relationship pertaining to this work exists for any author.

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