Retinal Function in an Unique Syndrome of Optic Atrophy, Juvenile Diabetes Mellitus, Diabetes Insipidus, Neurosensory Hearing Loss, Autonomic Dysfunction, and Hyperalanineuria

¹ Laboratory of Vision Research and the Clinical Branch, National Eye Institute, National Institutes of Health, United States Department of Health, Education, and Welfare, Bethesda, Md.; Universitäts-Augenklinik, Kantonspital, Rämistr. 100, 8006, Zürich, Switzerland
² Laboratory of Vision Research and the Clinical Branch, National Eye Institute, National Institutes of Health, United States Department of Health, Education, and Welfare, Bethesda, Md.

Reprint requests: Dr. John L. Marquardt, Building 6, Room 414, National Eye Institute, National Eye Institute, National Institutes of Health, Bethesda, Md. 20014.

Retinal function was studied with both psychophysical and electrophysiologic methods in two siblings with an unusual syndrome consisting of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria. Psychophysical testing revealed a profound loss of visual function; electrophysiologic testing revealed involvement of the retina external to the ganglion cell layer to a moderate degree with the cone system being more involved than the rod system. The electrophysiologic data are incompatible with the degree of subjective visual loss. It is concluded that the ganglion cell and optic nerve fiber layer are predominantly affected and to a certain extent the inner nuclear layer of the central retina. The hypothesis is entertained that the latter may be due to retrograde transynaptic degeneration.

Key Words: optic atrophy • retinal function • electroretinogram • juvenile diabetes mellitus • diabetes insipidus • autonomic dysfunction • neurosensory hearing loss

Revised on May 16, 1972
Accepted on October 25, 1971