Scalloped Pupil in a Patient With Familial Amyloid Polyneuropathy

Rusescu, Bianca-Violeta; Kerschen, P.; Diederich, N. J. (2018). Scalloped Pupil in a Patient With Familial Amyloid Polyneuropathy. JAMA neurology, 75(11), pp. 1435-1436. American Medical Association 10.1001/jamaneurol.2018.2075

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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.

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