1. Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?
- Author
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Gelzinis A, Simonaviciute D, Krucaite A, Buzzonetti L, Dollfus H, and Zemaitiene R
- Subjects
- Adult, Child, Child, Preschool, Humans, Muscle Hypotonia complications, Syndrome, Anesthesia adverse effects, Corneal Dystrophies, Hereditary, Corneal Ulcer diagnosis, Corneal Ulcer drug therapy, Corneal Ulcer etiology, Deafness, Intellectual Disability complications, Keratitis complications, Keratitis diagnosis, Keratitis therapy, Metabolic Diseases
- Abstract
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.
- Published
- 2022
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