Ocular involvement in histidinaemia.
Two patients, a brother and sister, presenting with reduced visual acuity, nystagmus, hypopigmentation of the maculae, head nodding, dysarthria and other neuromuscular incoordinations are reported. They were found to be suffering from histidinaemia by aminoacid analysis of urine.
Dhir
S P
SP
Department of Ophthalmology, Al-Fateh University, Tripoli, Libya.
Shisku
M W
MW
Krewi
A
A
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D002648:Child; D005260:Female; D006639:Histidine / Q000097:blood*; D006801:Humans; D008266:Macula Lutea; D008297:Male; D009759:Nystagmus, Pathologic / Q000209:etiology* / Q000235:genetics; D010859:Pigmentation Disorders / Q000209:etiology* / Q000235:genetics; D012164:Retinal Diseases / Q000209:etiology / Q000235:genetics; D014786:Vision Disorders / Q000209:etiology* / Q000235:genetics; D014792:Visual Acuity
D006639:Histidine