Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypovitaminosis A caused by a malabsorption syndrome had led to nearly selective disturbance of rod function in a 30 years old female. No rod dark-adaptation could be recorded. The b-wave in the ERG was lacking and the EOG was flat. The cone function appeared to be unimpaired. This could be documented by normal cone-ERG, colour vision, visual acuity and central visual fields. Following treatment with vitamin A the subjective dark-adaptation, the b-wave in ERG and the EOG recovered. The results show that cones contribute barely to the oscillations of EOG.
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PMID:[The influence of vitamin A deficiency on the electrooculogram (author's transl)]. 108 97

Systemic mastocytosis is characterized by an increased number of mast cells in multiple organs particularly skin. A 55-year-old man with mastocytosis presented with nyctalopia caused by malabsorption of vitamin A. Diagnosis was made by documenting a low vitamin A level and an ERG that showed rod-cone deficiency with rods affected more than cones. Vitamin A therapy led to return of good visual function. To our knowledge, this is the first reported case of mastocytosis induced nyctalopia. Vitamin A deficiency should be considered as a potential cause of visual loss in patients with sudden onset of night blindness.
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PMID:Mastocytosis-induced nyctalopia. 879 68