Ocular involvement in histidinaemia.

Case report


Dhir SP, Shisku MW, Krewi A.

Department of Ophthalmology, Al-Fateh University, Tripoli, Libya.

Ophthalmic Paediatr Genet. 1987 Nov;8(3):175-6.


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.

Keywords: Ocular involvement in histidinaemia.