In a series of papers, the first of which was published in 1949, Riley * and his co-workers have described a syndrome, called familial dysautonomia, which is becoming of increasing interest to both the pediatrician and the ophthalmologist. Since the syndrome has been defined only in recent years, there are relatively few cases on record. Nevertheless, it is probably not a rare disease. Dr. Riley † knows of more than 70 cases which meet his criteria.
The syndrome is characterized by a plethora of symptoms. The earliest manifestations in infancy may be retarded development with low weight gain, difficulty in swallowing, and frequent bouts of respiratory infection or aspiration pneumonia with an exaggerated febrile response. The infant is subject to dehydration and may perspire and drool excessively. He fails to produce tears when he cries. The reported cases have occurred in Jewish children, with a few exceptions. The physical examination reveals
LIEBMAN SD. Ocular Manifestations of Riley-Day Syndrome: Familial Autonomic Dysfunction. AMA Arch Ophthalmol. 1956;56(5):719–725. doi:10.1001/archopht.1956.00930040727011
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