Congenital Corneal Anesthesia
Congenital corneal anesthesia is a rare, usually bilateral, condition that is often misdiagnosed as herpes simplex virus keratitis, recurrent corneal erosion, or dry eye. Most patients present with painless corneal opacities and sterile epithelial ulcerations during infancy or childhood. Rosenberg classified the disorder into 3 distinct groups: Group I is associated with isolated trigeminal anesthesia, which is probably due to primary hypoplasia of the hindbrain. Group II is associated with mesenchymal anomalies, which include Goldenhar syndrome, Möbius syndrome, and familial dysautonomia (FD; also known as Riley-Day syndrome or hereditary sensory and autonomic neuropathy type III). Group III is associated with focal brainstem signs without evidence of mesenchymal dysplasia.
A thorough systemic examination, including neuroradiologic studies, is performed to rule out associated systemic conditions. In family linkage studies, FD is an autosomal recessive disorder that maps to 9q31-q33. CIPA (congenital insensitivity to pain with anhidrosis), another rare autosomal recessive condition associated with congenital corneal anesthesia, is linked to mutations in the NTRK1 gene, located at 1q23.
Treatment options for congenital corneal anesthesia include frequent topical lubrication, punctal occlusion, nighttime eyelid splinting, permanent lateral tarsorrhaphy, amniotic membrane transplantation, scleral contact lenses, and, in recalcitrant cases, conjunctival flap to stabilize the ocular surface. Recombinant human nerve growth factor, recently FDA approved for patients aged 2 years and older for treatment of neurotrophic keratopathy, may have utility in the treatment of congenital corneal anesthesia.
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Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. 2006;21(2):247–255.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.