Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria.
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.
Ticho
B H
BH
University of Illinois Eye and Ear Infirmary, Chicago.
Feist
R M
RM
Fishman
G A
GA
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
D008764:Methylmalonic Acid