The study concluded that the CCA is an uncommon cause of corneal ulceration in young patients, with a reported poor visual prognosis. We correlated clinical findings in patients with CCA with corneal SBNP morphology and DCD on confocal microscopy.

Eight patients with CCA were examined, of which three had a diagnosis of familial dysautonomia. Age at initial diagnosis of corneal disease ranged from infancy to 22 years, the most common presentation being corneal ulceration.

All patients with CCA except one with optic neuropathy had corrected visual acuity 6/18 (logMAR 0.35) or better in at least one eye. Measured corneal sensation was minimal in all patients. Major abnormalities were found on confocal microscopy in all patients with CCA, whether or not inherited, including statistically significant reduction in SBNP nerve fibre density, fibre length and branch density. Increased DCD in superficial cornea was found in all patients with CCA.

The study concluded that the good visual acuity can be maintained in eyes with corneal anaesthesia present from birth. IVCM gave evidence of a morphological correlate for measured corneal anaesthesia. Increased DCD may indicate an enhanced role of immune cells in superficial cornea in protection of the anaesthetic ocular surface.

Reference: https://bjo.bmj.com/content/early/2020/09/14/bjophthalmol-2020-316672