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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology |
UniBE Contributor: |
Rusescu, Bianca-Violeta |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
2168-6157 |
Publisher: |
American Medical Association |
Language: |
English |
Submitter: |
Panagiota Milona |
Date Deposited: |
26 Mar 2019 07:45 |
Last Modified: |
05 Dec 2022 15:25 |
Publisher DOI: |
10.1001/jamaneurol.2018.2075 |
PubMed ID: |
30073303 |
BORIS DOI: |
10.7892/boris.124763 |
URI: |
https://boris.unibe.ch/id/eprint/124763 |