Abstract

PurposeTo relate central corneal epithelial phenotype to degree of keratopathy in a limbal stem cell deficient population. Methods37 patients (67 eyes) with aniridia-associated keratopathy (AAK) underwent corneal examination including slit lamp biomicroscopy to determine the Grade of AAK, Cochet-Bonnet esthesiometry, and in vivo confocal microscopy (IVCM) to assess morphology of the central corneal epithelium and subepithelial region. ResultsAAK Grade ranged from 1 (limbal involvement only) to 4 (total conjunctivalization), with progression from Grade 1 occurring after the age of 20. 30% of subjects had an asymmetric Grade between eyes. In early-stage AAK (Grades 1–2), central epithelial cells had mixed corneal-conjunctival phenotype, touch sensitivity and subbasal nerves diminished, and mature dendritic cells, inflammatory leukocytes, and blood vessels were present despite central transparency in the slit lamp. In later stages (Grades 3–4) of the LSCD, neural deficit and nerve function worsened, immune cell invasion increased, and lymphatic vessels were detected in several cases. Goblet cells and epithelial cysts were observed to varying degrees in all stages, but without clear association to AAK severity. The clinical grade and progression of AAK was strongly associated with the central corneal epithelial phenotype. ConclusionsAAK is associated with degradation of epithelial phenotype, a neural deficit, and immune compromised status even in the clear central cornea in the earliest stages. IVCM can aid in assessing whether the conditions for limbal stem cell maintenance are likely to exist, based on morphology of the central epithelial microenvironment.

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