Case report
English
Dhir SP, Shisku MW, Krewi A.
Department of Ophthalmology, Al-Fateh University, Tripoli, Libya.
Ophthalmic Paediatr Genet. 1987 Nov;8(3):175-6.
Abstract
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.
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