• 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.
Arrindell EL, Trobe JD, Sieving PA, Barnett JL. Pupillary and Electroretinographic Abnormalities in a Family With Neuronal Intranuclear Hyaline Inclusion Disease. Arch Ophthalmol. 1991;109(3):373-378. doi:10.1001/archopht.1991.01080030075043