title: The ocular abnormalities of blue diaper syndrome.
abstract: We describe the ocular abnormalities seen in a new metabolic disease which is deficient in the transport of tryptophan. Besides the symptoms and signs reported previously, we have found microconea, hypoplasia of the optic disc and abnormal eye movements in our case--a ten-year-old-boy. The sibling involvement and consaguineous marriage of the parents suggest a recessive heredity.
authors.affiliation: Zhongshan Ophthalmic Center SUMS, Guangzhou, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Chen
authors.forename: L
authors.initials: L
authors.lastname: Wu
authors.forename: Q
authors.initials: Q
authors.lastname: Xiong
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors; D002114:Calcinosis; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis*; D006801:Humans; D006934:Hypercalcemia; D007674:Kidney Diseases; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014364:Tryptophan / Q000378:metabolism*; D014792:Visual Acuity
chemical_list: D014364:Tryptophan