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

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Abstract

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.