Familial dysautonomia (Riley-Day syndrome) is a disorder of autonomic dysfunction characterized by relative insensitivity to pain, temperature instability, and absence of the fungiform papillae of the tongue. The phenotype occurs largely in children of Eastern European Jewish (Ashkenazic) descent and results from biallelic IKBKAP mutations. Failure to respond with a wheal and flare to intradermal injection of 1:1000 histamine solution is characteristic. Exposure keratitis and corneal ulcers with secondary opacification are frequent. Treatment includes artificial tears and tarsorrhaphy.
Waardenburg syndrome is a rare neurocristopathy characterized by Hirschsprung disease; deafness; and depigmentation of hair (a white forelock), skin, and iris. Ophthalmic findings include telecanthus and dystopia canthorum (see Chapter 17).
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.