[Skip to Content]
[Skip to Content Landing]
Views 147
Citations 0
Images in Neurology
July 30, 2018

Scalloped Pupil in a Patient With Familial Amyloid Polyneuropathy

Author Affiliations
  • 1Department of Neurology, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg
  • 2Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Switzerland
JAMA Neurol. Published online July 30, 2018. doi:10.1001/jamaneurol.2018.2075

A 46-year old man underwent liver transplant at the age of 29 years for familial amyloid polyneuropathy (FAP) because of a mutation at codon 30 of the transthyretin gene (TTR), resulting in a methionine for valine substitution (Val30Met). He presented to our neurology clinic with deterioration of his general condition, weight loss of 10 kg within 1 year, gait disturbances, and short episodes of loss of consciousness. On clinical examination, the right pupil was larger than the left (Figure, A and B). The left pupil also had irregular outlines. Light reflex was weak on both sides without light-near dissociation, suggesting impairment of the parasympathetic innervation of the pupil. Further ophthalmologic evaluation disclosed vitreous opacities. Intraocular pressure was normal.

First Page Preview View Large
First page PDF preview
First page PDF preview
×