Investigation of eye findings in children diagnosed with phenylketonuria

Introduction And Purpose: Recently, interest has focused on the choroid, an important structure involved in the pathophysiology of metabolic diseases. The choroid is a highly vascular structure; therefore, a wide variety of systemic conditions can affect this. Conversely, choroidal health can also give us information about systemic health. After the use of optical coherence tomography, there has been an increase in research on choroidal thickness and the factors affecting it. In this study, we investigated for the first time diagnosed with phenylketonuria children's eye findings in Turkey. Thus, we will try to detect changes in the eye findings of our patients diagnosed with phenylketonuria, such as mean blood phenylalanine levels, age, gender and early or late diagnosis. Results: Thitry-four eyes of the study group patients were analyzed and central corneal thickness, anterior dept, retinal nerve fiber layer, intraocular pressure endothelial cell densty, coefficient of variation of cell area, hexoganility percentage and subfoveal choroid thickness values did not differ statistically (p<0.05). When the coefficient of variation of cell area and hexoganility percentage values of the eye analysis of the study group patients were compared according to gender, a statistically significant difference was found (p <0.05). While CV value of girls is higher than boys, HEX% of boys is higher than girls. Conclusion: We examined both eye findings of our 17 patients with phenylketonuria. We could not detect any pathological condition in both eyes of our patients. Keywords: Phenylketonuria, Optical Coherence Tomography, Subfoveal Choroid Thickness.