Hyperprolinaemia and gyrate atrophy of the choroid and retina in members of the same family.
D000328:Adult; D001284:Atrophy; D002648:Child; D002829:Choroid / Q000473:pathology*; D002869:Chromosome Aberrations / Q000097:blood / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D006909:Hydroxyproline / Q000097:blood; D008297:Male; D009216:Myopia / Q000209:etiology; D009952:Ornithine / Q000378:metabolism; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency*; D011392:Proline / Q000097:blood*; D011394:Proline Oxidase / Q000172:deficiency*; D012160:Retina / Q000473:pathology*; D014792:Visual Acuity
D011392:Proline; D009952:Ornithine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D011394:Proline Oxidase; D006909:Hydroxyproline