ArticleMolecular genetics and metabolism reports2020
Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.Journal of neurology · 2023Pooled it
- Evaluation of corneal and anterior segment parameters in pediatric phenylketonuria.Japanese journal of ophthalmology · 2026Observational
- Neurovascular retinal impairment in early-treated adults with phenylketonuria.Frontiers in neurology · 2024Article
- Detection of macular ganglion cell complex loss and correlation with choroidal thickness in chronic and recurrent central serous chorioretinopathy.International journal of ophthalmology · 2023Article
- Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity.Molecular genetics and metabolism · 2022Review
- Comparative metabolomics in the PahMolecular genetics and metabolism · 2022Article
- 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
- A New View of Bone Loss in Phenylketonuria.Organogenesis · 2021Article
- Reduced macular thickness and macular vessel density in early-treated adult patients with PKU.Molecular genetics and metabolism reports · 2021Article
- Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.Frontiers in neurology · 2021Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRetinal 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.
methodsIn 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)
resultsAmong functional tests there were significant differences in contrast sensitivity at 1.5 (
conclusionsOur 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.
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