Pupillary and Electroretinographic Abnormalities in a Family With Neuronal Intranuclear Hyaline Inclusion Disease

Everton L. Arrindell, Jonathan D. Trobe, Paul A. Sieving, Jeffrey L. Barnett

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

Abnormal pupillary function and a severely depressed electroretinogram were found in four members of a family with neuronal intranuclear hyaline inclusion disease, an idiopathic degenerative disorder that involves the central and peripheral nervous systems. Symptoms were limited to the gastrointestinal system and consisted principally of abdominal pain, constipation, and severe weight loss. The discovery of light-fixed pupils in the propositus led to the first antemortem diagnosis by rectal biopsy in two generations of this family. Abnormalities of gastrointestinal motility and pupillary reactions constituted the only objective evidence of autonomic dysfunction; the abnormal electroretinogram was the only evidence of central nervous system dysfunction.

Original languageEnglish (US)
Pages (from-to)373-378
Number of pages6
JournalArchives of Ophthalmology
Volume109
Issue number3
DOIs
StatePublished - Mar 1991
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

Fingerprint Dive into the research topics of 'Pupillary and Electroretinographic Abnormalities in a Family With Neuronal Intranuclear Hyaline Inclusion Disease'. Together they form a unique fingerprint.

Cite this