Retinal function in an unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria.
D000221:Adaptation, Ocular; D000328:Adult; D000409:Alanine / Q000378:metabolism / Q000652:urine*; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D003919:Diabetes Insipidus / Q000150:complications / Q000503:physiopathology*; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000503:physiopathology*; D004402:Dysautonomia, Familial / Q000150:complications / Q000503:physiopathology*; D004596:Electroretinography; D005260:Female; D006311:Hearing Disorders / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D006973:Hypertension / Q000150:complications; D009896:Optic Atrophy / Q000150:complications / Q000503:physiopathology*; D012160:Retina / Q000503:physiopathology*; D013577:Syndrome; D014794:Visual Fields
D000409:Alanine