Hereditary sensory neuropathy with macular dystrophy.
This is the first published report of a kindred with HSN in which the propositus and one other member had bilateral macular degeneration, and a third member progressive visual loss, presumably due to similar lesions. This association may represent variable expressivity of a single gene and/or it may be a unique genetic syndrome warranting a separate classification within the HSN group. We also report that the peripheral neuropathy symptomatically benefited from prednisone.
D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications* / Q000235:genetics; D006801:Humans; D008268:Macular Degeneration / Q000150:complications* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree