Pupillary and electroretinographic abnormalities in a family with neuronal intranuclear hyaline inclusion disease
E. L. Arrindell, J. D. Trobe, P. A. Sieving and J. L. Barnett
W. K. Kellogg Eye Center, Ann Arbor, MI 48105.
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.
