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

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.

Exophthalmometry value distribution in healthy Lithuanian children and adolescents.

PURPOSE: To determine absolute and relative ocular protrusion values for healthy Lithuanian children and adolescents and analyze the data according to the age, gender, weight, height, and outer orbital distance. METHODS: A total of 397 children and adolescents were included in this study. Measurements for the right and left eyes protrusions were done with Hertel exophthalmometer in healthy subjects aged from 5 to 18 years old. Height, weight, age and gender of subjects were recorded. RESULTS: The mean age for all children and adolescents was 11.5 ± 3.6 years. For all subjects, the mean (±SD) absolute ocular protrusion value of both eyes (OU) was 14.91 ± 1.68 mm. There was no significant difference in measurements between male and female subjects although female eye protrusion was higher. No individual had more than 2 mm of asymmetry between eyes. Mean exophthalmometric values for right eye were greater than the values of the left eye, and the mean relative protrusion for all participants was 0.2 mm. The mean distance between the lateral rims of the orbits was 98.7 ± 5.2 mm for all subjects. Proptosis measurements significantly correlated with the age, weight and height of children and adolescents and base measurements. CONCLUSIONS: In the present study, we have established ocular proptosis values according to the age, gender, weight and height of healthy Lithuanian children and adolescents. The eye protrusion significantly correlated with the age, weight and height of subjects and the distance between the lateral rims of the orbits. The gender did not play significant role on the eye projection data. We believe that larger, well-design studies are necessary in future to assess the distribution of proptosis in healthy Lithuanian children and adolescents.