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Neurovascular retinal impairment in early-treated adults with phenylketonuria
Rosa Buonamassa1, Giacomo Boscia1, Marida Gaudiomonte1
1Department of Translational Biomedicine Neuroscience, University of Bari "Aldo Moro", Bari, Italy.
Insights
Early-treated adults with phenylketonuria (ETPKU) show reduced peripapillary retinal nerve fiber layer thickness. Optical coherence tomography angiography reveals increased radial peripapillary capillary plexus perfusion in ETPKU patients, suggesting novel retinal biomarkers.
Area of Science:
- Ophthalmology
- Metabolic Disorders
- Neuroscience
Background:
- Phenylketonuria (PKU) is a genetic disorder requiring early treatment to prevent neurological damage.
- Long-term effects of early-treated PKU on ocular microvasculature and retinal nerve fiber layer are not fully understood.
- Radial peripapillary capillary (RPC) plexus and peripapillary retinal nerve fiber layer (pRNFL) are crucial for visual function.
Purpose of the Study:
- To compare RPC vascular plexus parameters and pRNFL thickness between early-treated adults with PKU (ETPKU) and healthy controls.
- To investigate potential ocular biomarkers for monitoring PKU progression or complications.
Main Methods:
- A monocentric, case-control study included 36 eyes of 36 participants (18 ETPKU, 18 controls).
- Swept-source optical coherence tomography angiography (SS-OCTA) was used to assess RPC vessel density (VD) and pRNFL thickness.
- Standard OCT and OCTA parameters were analyzed.
Main Results:
- ETPKU participants exhibited significantly reduced average pRNFL thickness compared to controls (p=0.046).
- Mean VD% of small RPC vessels was higher in ETPKU (52.31%) versus controls (50.71%) (p=0.049).
- Overall RPC plexus VD% was significantly elevated in ETPKU (58.5%) compared to controls (55.08%) (p<0.001).
Conclusions:
- Structural OCT and OCTA revealed thinning of retinal nerve fibers and increased perfusion in the RPC plexus in ETPKU.
- OCTA may serve as a noninvasive tool for identifying novel retinal biomarkers in ETPKU.
- These findings suggest potential microvascular and structural changes in the retina of ETPKU patients.
Purpose:
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.
Methods:
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.
Results:
The average pRNFL thickness was significantly reduced in ETPKU (110.78 ± 12.48 μm) compared to controls (113.22 ± 13.95 μm), p = 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 (p = 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 (p < 0.001). By contrast, there were no differences in age, sex, and IOP between the two groups.
Conclusion:
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.
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