Atypical gyrate atrophy of the choroid and retina associated with iminoglycinuria.
A 44-year-old woman had a fundus appearance similar to that of gyrate atrophy, a macular lesion, and excessive urinary excretion of proline, hydroxyproline, and glycine. The patient also had abnormal ciliary processes and patchy atrophy of the irides. To our knowledge, this is the first reported case of ocular manifestations associated with iminoglycinuria.
D000328:Adult; D001284:Atrophy / Q000473:pathology; D002829:Choroid / Q000473:pathology*; D005998:Glycine / Q000652:urine*; D006801:Humans; D006909:Hydroxyproline / Q000652:urine; D007098:Imino Acids / Q000652:urine*; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D011392:Proline / Q000652:urine; D012164:Retinal Diseases / Q000150:complications / Q000473:pathology; D014603:Uveal Diseases / Q000150:complications / Q000473:pathology
D007098:Imino Acids; D011392:Proline; D006909:Hydroxyproline; D005998:Glycine