AUTHOR=Buonamassa Rosa , Boscia Giacomo , Gaudiomonte Marida , Guerriero Silvana , Fischetto Rita , Montepara Alfonso , Grassi Maria Oliva , Pignataro Maria Grazia , Puzo Pasquale , Giancipoli Ermete , D’addario Marina , Alessio Giovanni , Boscia Francesco , Viggiano Pasquale 

TITLE=Neurovascular retinal impairment in early-treated adults with phenylketonuria

JOURNAL=Frontiers in Neurology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1305984

DOI=10.3389/fneur.2024.1305984

ISSN=1664-2295

ABSTRACT=<sec id="sec1"><title>Purpose</title><p>To compare radial peripapillary capillary (RPC) vascular plexus parameters and peripapillary retinal nerve fiber layer (pRNFL) thickness between Early-Treated Adults with Phenylketonuria (ETPKU) and controls.</p></sec><sec id="sec2"><title>Methods</title><p>This observational study was a monocentric, case control study including 36 eyes of 36 participants. Among these, 18 were early-treated PKU (ETPKU) and 18 were controls. A SD-OCTA (XR Avanti AngioVue OCTA; Optovue Inc., Fremont, CA) was employed to assess the OCT and OCTA parameters of all the participants. The main outcome measures were the RPC vessels density (VD) %, and the pRNFL thickness.</p></sec><sec id="sec3"><title>Results</title><p>The average pRNFL thickness was significantly reduced in ETPKU (110.78 ± 12.48 μm) compared to controls (113.22 ± 13.95 μm), <italic>p</italic> = 0.046. The mean VD% of the small vessels of the RPC plexus was 52.31 ± 2.2 in ETPKU and 50.71 ± 3.2 in controls (<italic>p</italic> = 0.049), while the VD% of all the radial peripapillary capillary plexus (RPCP) was 58.5 ± 2.2 in ETPKU and 55.08 ± 3.4 in controls (<italic>p</italic> &lt; 0.001). By contrast, there were no differences in age, sex, and IOP between the two groups.</p></sec><sec id="sec4"><title>Conclusion</title><p>Through structural OCT and OCTA, we observed thinning of the nerve fibers accompanied by an increase in perfusion of the RPC plexus. Thus, our conclusions suggest that OCTA may serve as a noninvasive method to identify novel retinal biomarkers in ETPKU.</p></sec>