Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?

Medicina (Kaunas). 2022 May 13;58(5):657. doi: 10.3390/medicina58050657.


Neurotrophic keratitis is a rare degenerative disease of the cornea that can lead to corneal ulceration, scarring, and significant visual impairment. It most commonly occurs in adults and is rarely diagnosed in children. Congenital corneal anesthesia is an extremely rare condition that requires appropriate ophthalmologists' attention in making diagnosis and treatment decisions. This condition usually presents in infancy or early childhood and is characterized by rare blinking rate, decreased tearing or a corneal ulcer that is unresponsive to treatment. In this case report, we describe a patient with multiple systemic and neurological disorders who presented to the ophthalmology department due to corneal erosion unresponsive to treatment. Brain magnetic resonance imaging confirmed bilateral trigeminal hypoplasia and the diagnosis of neurotrophic keratopathy due to bilateral congenital corneal anesthesia was made. The discrepancy between clinical signs and symptoms or treatment non-response in cases of corneal erosions should alert the ophthalmologists to suspect trigeminal dysfunction. MRI is the gold standard to confirm congenital corneal anesthesia and to differentiate from other possible neurotrophic keratitis causes.

Keywords: congenital corneal anesthesia; corneal erosion; corneal ulcer; neurotrophic keratitis; neurotrophic keratopathy; trigeminal nerve.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anesthesia* / adverse effects
  • Child
  • Child, Preschool
  • Corneal Dystrophies, Hereditary*
  • Corneal Ulcer* / diagnosis
  • Corneal Ulcer* / drug therapy
  • Corneal Ulcer* / etiology
  • Deafness*
  • Humans
  • Intellectual Disability* / complications
  • Keratitis* / complications
  • Keratitis* / diagnosis
  • Keratitis* / therapy
  • Metabolic Diseases*
  • Muscle Hypotonia / complications
  • Syndrome

Grants and funding

This research received no external funding.