Riley-day syndrome (congenital familial dysautonomia)

General: Autosomal recessive; occurs in Ashkenazi Jewish population; im 636i87g paired catechol metabolism; manifested in first few days of life; characterized by developmental loss of neurons from the sensory and autonomic nervous systems.

Ocular: Congenital failure of tear production; corneal anesthesia; neuroparalytic keratitis; keratitis sicca; corneal ulcers; optic atrophy.

Clinical: Excessive salivation; failure to thrive; recurrent respiratory infections; diarrhea; insensitivity to pain; spontaneous fractures; pandysautonomia; orthostatic hypotension; gastrointestinal paresis; decreased fungiform papillae on the tongue.

Blumenfeld A, et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet 1993; 4:160-l64.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Howard RO. Familial dysautonomia (Riley-Day syndrome). Am J Ophthalmol 1967; 64:392.

Riley CM, et al. Central autonomic dysfunction with defective lacrimation: report of 6 cases. Pediatrics 1949; 3:468.

Rizzo JF, et al. Optic atrophy in familial dysautonomia. Am J Ophthalmol 1986; 102:463-467.

Thomas PK. Autonomic involvement in inherited neuropathies. Clin Auton Res 1992; 2:51-56.