Ocular findings in a case of fucosidosis.
The ocular findings in a case of fucosidosis are described and the differential diagnosis is discussed. It is suggested that the level of alpha-L-fucosidase should be estimated in cases of bull's eye retinopathy.
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications; D003937:Diagnosis, Differential; D004186:Disaccharidases / Q000172:deficiency*; D005260:Female; D005643:Fucose / Q000378:metabolism; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000209:etiology*; D012162:Retinal Degeneration / Q000209:etiology*; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D005643:Fucose; D004186:Disaccharidases; D005644:alpha-L-Fucosidase