Abstract

A 2-month old girl, born to an elderly primigravida mother, presented to us with complaints of white reflex and discharge in the left eye since 2 weeks. Examination showed a corneal opacity in the right eye and a corneal ulcer in the left eye with no organisms isolated on microbiological testing. The ulcer healed with stromal melt over a month with topical treatment and a diagnosis of nutritional corneal xerosis was made. However over the next year, she had repeated episodes of keratitis in both eyes despite adequate nutritional correction. On looking deeper, we discovered something with potentially catastrophic effects if overlooked. The child had corneal anesthesia in both eyes. Further on genetic testing, the child was found to have Hereditary Sensory and Autonomic Neuropathy (HSAN) VIII.
We present a diagnostic guideline and clues which can help in timely diagnosis and treatment of congenital corneal anesthesia, which is essential to minimize long term complications.