Marquardt-Loriaux Syndrome (Wolfram Syndrome; Diabetes
Insipidus-Diabetes Mellitus-Optic
Atrophy-Deafness Syndrome; DIDMOAD Syndrome) 7
General: Autosomal recessive; present from childhood; age of onset varies.
Ocular: Optic nerve atrophy; color blindness; visual field defects; anisocoria; diabetic retinopathy; nystagmus; cataract; pigmentation of retina.
Clinical: Juvenile diabetes mellitus; diabetes insipidus; neurosensory hearing loss; hypertension; cerebellar dysfunction; vertigo; atony of urinary tract; anosmia; peripheral neuropathy; mitochondrial abnormalities; moderate hearing loss.
Bundey S, et al. Mitochondrial abnormalities in the DIDMOAD syndrome. J Inherit Metab Dis 1992; 15:315-319.
Higashi K. Otologic findings of DIDMOAD syndrome. Am J Otol 1991; 12:57-60.
Mtanda AT, et al. Optic atrophy in Wolfram syndrome. Ophthalmol Paediatr Genet 1986; 7:159-l65.
Niemeyer G, Marquardt JL. Retinal function in an unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria. Invest Ophthalmol Vis Sci 1972; 11:617.
Wolfram DJ. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 1938; 13:715.
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