NORD gratefully acknowledges William J. Kimberling, PhD, FACMG, Director of the Center for the Study and Treatment of Usher Syndrome, Boys Town Hospital, Professor of Biomedical Sciences, Creighton Medical School, Visiting Professor of Ophthalmology, University of Iowa Medical School, for assistance in the preparation of this report.
Rosenberg-Chutorian syndrome is an extremely rare genetic disorder characterized by the triad of hearing loss, degeneration of the optic nerve (optic atrophy) and neurological abnormalities, specifically disease of the nerves outside of the central nervous system (peripheral neuropathy). The arms and legs are most often affected by peripheral neuropathy. Rosenberg-Chutorian syndrome is inherited as an X-linked disorder with occasional mild symptoms present in the female carrier.
At least two other disorders are characterized by optic atrophy, hearing loss and peripheral neuropathy: Iwashita syndrome and Hagemoser syndrome. Most researchers consider these two disorders and Rosenberg-Chutorian syndrome separate disorders.
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., hearing loss, eye abnormalities).
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