Pathologic epithelial and anterior corneal nerve morphology in congenital aniridic keratopathy

Abstract

Abstract Purpose To document corneal morphology in Swedish families with congenital aniridia. Methods Detailed ophthalmic examinations were conducted in a number of affected and unaffected members. Digital slit lamp photography, anterior segment optical coherence tomography (ASOCT) and in‐vivo confocal microscopy (IVCM) examinations were performed bilaterally to document corneal morphology. Results Affected family members presented with different stages of aniridic keratopathy, with a corneal appearance varying from totally transparent to opaque and highly vascularised. Increased corneal thickness in affected members, particularly those with severe keratopathy, was noted by ASOCT. By IVCM, opaque corneas were characterized by active vessels and dense inflammatory cell infiltration. In corneas with milder keratopathy, pathologic epithelial findings included epithelial pleomorphism, focal epithelial opacities, and an absence of limbal epithelial crypts and focal stromal projections at the limbus. Nerves of the anterior cornea exhibited several distinct features, including an unusually close association of subbasal nerves with epithelial cells, an unusually high subbasal nerve density with highly branched nerves, and a prominent whorl region. Additionally, abnormally dense and tortuous anterior stromal nerves, attached to stromal keratocytes, were noted in unaffected members. Conclusion Altered epithelial morphology and a vigorous innervation of the anterior cornea were the most pronounced corneal findings in family members with milder forms of aniridic keratopathy. Further findings confirmed the known increase in corneal thickness and limbal stem cell abnormality in aniridia.