Ocular and electro - ophthalmological studies in Egyptian patients with phenylketonuria

ABSTRACT

Ocular and electro-ophthalmologic abnormalities are common findings in phenylketonuria [PKU]. The aim of the present work was to study these changes associated with phenylketonuria; also in correlation to magnetic resonance imaging of the brain [MRI], intelligence quotient [IQ] and metabolic control [plasma phenylalanine level]. In addition, the study aimed to test the validity of visual evoked potential [VEP] as an early indicator of metabolic status. The present study was conducted on 20 patients [15 males and 5 females] presenting with phenylketonuria. The patients were subjected to complete history taking including dietary history and three-generation family pedigree analysis. Full clinical examination with complete eye evaluation including eye motility, anterior chamber and fundus examination was done. Electro-retinography [ERG] and VEP studies were performed for all patients. IQ assessment, serum phenylalanine levels evaluation, interictal electroencephalogram assessment [EEG] and MRI were performed. Statistical analysis of the data was done using Student t test