Purpose Retinal changes are poorly described in early treated phenylketonuria (ETPKU). We aimed to investigate possible visual functional and ocular microstructural changes in adult patients with ETPKU. Optical coherence tomography (OCT) and its angiography (OCTA) data from patients with PKU were compared to healthy controls. Methods In this prospective, monocentric, cross-sectional, case-control study 50 patients with ETPKU and 50 healthy subjects were evaluated with OCT and OCTA. Measurements were performed on right eyes. The following visual function parameters were studied: best corrected visual acuity (BCVA), spherical equivalent (SE), contrast sensitivity and near stereoacuity; microstructural parameters: retinal nerve fiber layer thickness (RNFLT), ganglion cell layer (GCC) thickness , focal loss of volume (FLV), global loss of volume (GLV), peripapillary, papillary vessel density (VD), ocular axial length (AL) and intraocular pressure (IOP). Results Among functional tests there were significant differences in contrast sensitivity at 1.5 ( p < 0.001), 6 ( p < 0.013), 12 (p < 0.001), 18 ( p < 0.003) cycles per degree, in near stereoacuity (Titmus Wirt circles, p < 0.001) and in best corrected visual acuity (BCVA, p < 0.001). A statistically significant, moderate positive linear correlation was observed between BCVA and average Phe levels over the last ten years (β = 0.49, p < 0.001). The average (p < 0.001), superior (p < 0.001) inferior GCC (p < 0.001), the FLV ( p < 0.003), GLV (p < 0.001) and the average RNFLT ( p < 0.004) values of the PKU group were significantly lower than the controls. The serum phenylalanine level (Phe) in the PKU group negatively correlated with inferior (−0.32, p < 0.007), superior (r = −0.26, p < 0.028) and average (−0.29 p < 0.014) RNFL and with AL (−0.32, p < 0.026). In AL we detected a significant difference ( p < 0.04) between the good and suboptimal dietary controlled group. There was no significant difference between the ETPKU and control group in the measured vessel density parameters and in IOP. Conclusions Our results suggest that functional and ocular microstructural defects are present in patients with PKU, and some of them may depend on dietary control. The mechanism is unclear, but the correlation indicates the importance of strict dietary control in terms of preservation of retinal functions.

Purpose Macular structure is poorly evaluated in early-treated phenylketonuria (ETPKU). To evaluate potential changes, we aimed to examine retinas of PKU patients using optical coherence tomography (OCT) with additional OCT angiography (OCTA) and compare the results to healthy controls. Methods A total of 100 adults were recruited in this monocentric, case-control study: 50 patients with ETPKU (mean age: 30.66 ± 8.00 years) and 50 healthy controls (mean age: 30.45 ± 7.18 years). Macular thickness, vessel density and flow area of the right eye was assessed with spectral domain OCT angiography SD-OCT(A). Macular microstructural data between the ETPKU and control group was compared. In the ETPKU group, the relationship between visual functional parameters (best corrected visual acuity [VA], spherical equivalent [SE], contrast sensitivity [CS] and near stereoacuity) and microstructural alterations was examined. The dependency of OCT(A) values on serum phenylalanine (Phe) level was analysed. Results There was significant average parafoveal and perifoveal total retinal layer thinning in ETPKU patients compared to healthy controls ( p < 0.016 and p < 0.001, respectively), while the foveal region remained unchanged in the ETPKU group. Whole macular and parafoveal superficial capillary plexus density was significantly decreased in ETPKU compared to controls ( p < 0.001). There were no significant differences in the foveal avascular zone, nonflow area, macular superficial and deep capillary plexus between the groups. The temporal parafoveal inner retinal layer thickness was found to negatively correlate with individual Phe levels ( r = −0.35, p = 0.042). There was no difference in vascular density and retinal thickness in the subgroup analysis of patients with good therapy adherence compared to patients on a relaxed diet. Conclusions Durable elevation in Phe levels are only partially associated with macular retinal structural changes. However, therapy adherence might not influence these ophthalmological complications.

Purpose There is abundant evidence on the benefits of physical activity on cardiovascular health. However, there are only few data on the acute effects of physical exercise on the retina and choroid. Our aim was the in vivo examination of chorioretinal alterations following short intense physical activity by spectral domain optical coherence tomography (SD-OCT). Methods Twenty-one eyes of 21 healthy, young subjects (mean age 22.5 ± 4.1 years, 15 males and 6 females) were recruited. Macular scanning with a SD-OCT was performed before and following a vita maxima-type physical strain exercise on a rowing ergometer until complete fatigue. Follow-up OCT scans were performed 1, 5, 15, 30 and 60 minutes following the exercise. The OCT images were exported and analyzed using our custom-built OCTRIMA 3D software and the thickness of 7 retinal layers was calculated, along with semi-automated measurement of the choroidal thickness. One-way ANOVA analysis was performed followed by Dunnett post hoc test for the thickness change compared to baseline and the correlation between performance and thickness change has also been calculated. The level of significance was set at 0.001. Results We observed a significant thinning of the total retina 1 minute post-exercise (-7.3 ± 0.6 μm, p < 0.001) which was followed by a significant thickening by 5 and 15 minutes (+3.6 ± 0.6 μm and +4.0 ± 0.6 μm, respectively, both p <0.001). Post-exercise retinal thickness returned to baseline by 30 minutes. This trend was present throughout the most layers of the retina, with significant changes in the ganglion cell–inner plexiform layer complex, (-1.3 ± 0.1 μm, +0.6 ± 0.1 μm and +0.7 ± 0.1 μm, respectively, p <0.001 for all), in the inner nuclear layer at 1 and 5 minutes (-0.8 ± 0.1 μm and +0.8 ± 0.1 μm, respectively, p <0.001 for both), in the outer nuclear layer–photoreceptor inner segment complex at 5 minute (+2.3 ± 0.4 μm, p <0.001 for all) and in the interdigitation zone–retinal pigment epithelium complex at 1 and 15 minutes (-3.3 ± 0.4 μm and +1.8 ± 0.4 μm, respectively, p <0.001 for both). There was no significant change in choroidal thickness; however, we could detect a tendency towards thinning at 1, 15, and 30 minutes following exercise. The observed changes in thickness change did not correlate with performance. Similar trends were observed in both professional and amateur sportsmen (n = 15 and n = 6, respectively). The absolute changes in choroidal thickness did not show any correlation with the thickness changes of the intraretinal layers. Conclusions Our study implies that in young adults, intense physical exercise has an acute effect on the granular layers of the retina, resulting in thinning followed by rebound thickening before normalization. We could not identify any clear correlation with either choroidal changes or performance that might explain our observations, and hence the exact mechanism warrants further clarification. We believe that a combination of vascular and mechanic changes is behind the observed trends.

Regular physical exercise is known to lower the incidence of age-related eye diseases. We aimed to assess the acute chorioretinal alterations in older adults following intense physical strain. Seventeen senior elite athletes were recruited who underwent an aerobic exercise on a cycle ergometer and macular scanning by optical coherence tomography. A significant thinning of the entire retina was observed 1 min after exercise, followed by a thickening at 5 min, after which the thickness returned to baseline. This trend was similar in almost every single retinal layer, although a significant change was observed only in the inner retina. Choroidal thickness changes were neither significant nor did they correlate with the thickness changes of intraretinal layers. The mechanism of how these immediate retinal changes chronically impact age-related sight-threatening pathologies that, in turn, result in a substantially reduced quality of life warrants further investigation on nontrained older adults as well.