title: Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria.
abstract: We present the case of a patient with congenital methylmalonic aciduria with homocystinuria and a nondetectable electroretinogram. To our knowledge, this is a new entity to be considered in the differential diagnosis of nondetectable electroretinography in infancy.
authors.affiliation: University of Illinois Eye and Ear Infirmary, Chicago.
authors.forename: B H
authors.initials: BH
authors.lastname: Ticho
authors.forename: R M
authors.initials: RM
authors.lastname: Feist
authors.forename: G A
authors.initials: GA
authors.lastname: Fishman
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D004596:Electroretinography; D005260:Female; D006712:Homocystinuria / Q000503:physiopathology*; D006801:Humans; D008764:Methylmalonic Acid / Q000652:urine*; D010786:Photoreceptor Cells / Q000503:physiopathology*; D012162:Retinal Degeneration / Q000175:diagnosis / Q000503:physiopathology
chemical_list: D008764:Methylmalonic Acid