ArticleMolecular genetics and metabolism reports2021
Reduced macular thickness and macular vessel density in early-treated adult patients with PKU.
Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Correlation analysis between OCT evaluation and postoperative visual prognosis of patients with age-related macular degeneration complicated with cataract.BMC ophthalmology · 2025Article
- Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons.Molecular genetics and metabolism reports · 2024Article
- Neurovascular retinal impairment in early-treated adults with phenylketonuria.Frontiers in neurology · 2024Article
- Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex VivoMolecules (Basel, Switzerland) · 2023Article
- Retinal thinning in phenylketonuria and Gaucher disease type 3.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.Frontiers in neurology · 2022Article
- Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.Frontiers in neurology · 2021Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMacular 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.
methodsA 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.
resultsThere was significant average parafoveal and perifoveal total retinal layer thinning in ETPKU patients compared to healthy controls (
conclusionsDurable elevation in Phe levels are only partially associated with macular retinal structural changes. However, therapy adherence might not influence these ophthalmological complications.
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