Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients.
AAS, aminoacid supplements
AL, axial length
BCVA, best corrected visual acuity
BH4, Tetrahydrobiopterine
D, diopters
DA, dopamine
Dopamine
ETDRS, early treatment diabetic retinopathy study
ETPKU, early-treated phenylketonuria
FLV, focal loss of volume
GCC, ganglion cell layer thickness
GLV, global loss of volume
GMP, Glycomacropeptide
Ganglion cell layer thickness
IOP, intraocular pressure
LogMAR, logarithm of the minimum angle of resolution
Myopia
OCT, optical coherence tomography
OCTA, optical coherence tomography angiography
Optical coherence tomography angiography
PD, Parkinson's disease
PKU, phenylketonuria
Phe, phenylalanine
Phenylalanine level
Phenylketonuria
RNFL, retinal nerve fiber layer
RNFLT, retinal nerve fiber layer thickness
Retinal nerve fiber layer thickness
SD, spectral domain
SE, spherical equivalent
SWCT, sine wave contrast test
VD, vessel density
VEPs, Visual evoked potentials
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
30
07
2020
revised:
07
09
2020
accepted:
08
09
2020
entrez:
30
9
2020
pubmed:
1
10
2020
medline:
1
10
2020
Statut:
epublish
Résumé
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. 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) Among functional tests there were significant differences in contrast sensitivity at 1.5 ( 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.
Identifiants
pubmed: 32995291
doi: 10.1016/j.ymgmr.2020.100649
pii: S2214-4269(20)30095-1
pmc: PMC7516291
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100649Informations de copyright
© 2020 The Author(s).
Déclaration de conflit d'intérêts
The authors have no conflict of interest to report.
Références
Int Ophthalmol Clin. 2003 Spring;43(2):5-15
pubmed: 12711899
Arch Ophthalmol. 1983 Aug;101(8):1236-7
pubmed: 6882253
Neuropsychol Rev. 2007 Jun;17(2):91-101
pubmed: 17410469
Ther Adv Chronic Dis. 2019 Dec 2;10:2040622319882205
pubmed: 31832125
Sci Rep. 2016 Jun 30;6:28916
pubmed: 27356880
Transl Vis Sci Technol. 2016 Mar 4;5(2):1
pubmed: 26966637
Klin Monbl Augenheilkd. 2017 Sep;234(9):1109-1118
pubmed: 28628928
Mol Genet Metab Rep. 2020 Apr 22;23:100589
pubmed: 32346514
J Clin Diagn Res. 2016 Apr;10(4):NC15-7
pubmed: 27190850
Opt Express. 2007 Aug 20;15(17):10790-803
pubmed: 19547436
PLoS One. 2013 Jun 24;8(6):e66763
pubmed: 23826129
Vision Res. 1997 Dec;37(24):3509-29
pubmed: 9425527
Korean J Ophthalmol. 2006 Dec;20(4):215-9
pubmed: 17302206
Neuropsychologia. 2002;40(1):7-15
pubmed: 11595258
BMJ Case Rep. 2013 Jul 12;2013:
pubmed: 23853024
Nutrients. 2020 Jul 20;12(7):
pubmed: 32698408
Mov Disord. 2014 Jan;29(1):68-74
pubmed: 24458320
Biomed Opt Express. 2012 Dec 1;3(12):3127-37
pubmed: 23243564
J Glaucoma. 2013 Sep;22(7):532-41
pubmed: 22549477
Mol Genet Metab. 2011;104 Suppl:S2-9
pubmed: 21937252
Eur J Epidemiol. 2015 Apr;30(4):305-15
pubmed: 25784363
J Inherit Metab Dis. 2007 Aug;30(4):430-8
pubmed: 17616847
Clin Ophthalmol. 2015 Jun 11;9:1057-64
pubmed: 26089638
Br J Ophthalmol. 2017 Apr;101(4):449-452
pubmed: 27450146
Invest Ophthalmol Vis Sci. 2014 Jul 22;55(8):5134-43
pubmed: 25052998
Invest Ophthalmol Vis Sci. 2012 Jul 27;53(8):4990-7
pubmed: 22743319
J Neurol Neurosurg Psychiatry. 1995 Sep;59(3):260-5
pubmed: 7673953
IUBMB Life. 2013 Apr;65(4):341-9
pubmed: 23457044
Mol Genet Metab. 2007 Sep-Oct;92(1-2):63-70
pubmed: 17591452
Genet Med. 2014 Feb;16(2):188-200
pubmed: 24385074
J Comp Neurol. 1982 Sep 1;210(1):65-79
pubmed: 6127354
Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2315-21
pubmed: 18515577
Front Neurol. 2017 Aug 15;8:359
pubmed: 28861029
Int J Ophthalmol. 2015 Apr 18;8(2):374-81
pubmed: 25938059
Trends Neurosci. 1990 Jul;13(7):296-302
pubmed: 1695407
Ophthalmic Physiol Opt. 2015 Nov;35(6):631-6
pubmed: 26497296
Proc R Soc Lond B Biol Sci. 1978 Apr 13;201(1142):7-26
pubmed: 27792
Prog Retin Eye Res. 2017 Nov;61:60-71
pubmed: 28602573
Vision Res. 2004 Nov;44(24):2793-7
pubmed: 15342223
Invest Ophthalmol Vis Sci. 2016 Jul 1;57(9):OCT27-36
pubmed: 27409483
J Biomed Opt. 2016 Jun 1;21(6):65002
pubmed: 27272095
J Comp Neurol. 1997 Sep 15;386(1):149-60
pubmed: 9303531
Hormones (Athens). 2020 Sep;19(3):395-402
pubmed: 31993977
Exp Eye Res. 2013 Sep;114:106-19
pubmed: 23434455
Invest Ophthalmol Vis Sci. 1990 Nov;31(11):2473-5
pubmed: 2243012
J Parkinsons Dis. 2014;4(2):197-204
pubmed: 24518436
Orphanet J Rare Dis. 2020 May 25;15(1):124
pubmed: 32450880
Child Dev. 1990 Dec;61(6):1697-713
pubmed: 2083493
Medicine (Baltimore). 2017 Dec;96(51):e9322
pubmed: 29390507
Brain. 1996 Apr;119 ( Pt 2):523-38
pubmed: 8800946
Mol Genet Metab. 2013 Jan;108(1):1-7
pubmed: 23219290
Brain Res. 1990 Sep 10;527(1):21-31
pubmed: 1980839
J Comp Neurol. 2009 Nov 10;517(2):226-44
pubmed: 19731338
Am J Optom Physiol Opt. 1976 Nov;53(11):740-5
pubmed: 998716
Ophthalmology. 2016 Jan;123(1):198-202
pubmed: 26481817
Ophthalmology. 2016 May;123(5):1036-42
pubmed: 26875007
Ann Neurol. 2001 Oct;50(4):463-7
pubmed: 11601498
BMC Ophthalmol. 2017 Nov 2;17(1):199
pubmed: 29096616
Mol Genet Metab. 2010;99 Suppl 1:S3-9
pubmed: 20123467
Neuropediatrics. 1988 Nov;19(4):175-8
pubmed: 3264602
Am J Ophthalmol. 2015 Nov;160(5):1034-1043.e1
pubmed: 26210861
Doc Ophthalmol. 2004 Jan;108(1):17-40
pubmed: 15104164
J Cataract Refract Surg. 2002 Feb;28(2):235-8
pubmed: 11821202
Orphanet J Rare Dis. 2017 Oct 12;12(1):162
pubmed: 29025426
J Clin Invest. 1999 Apr;103(8):1169-78
pubmed: 10207169
Invest Ophthalmol Vis Sci. 2014 Jul 17;55(8):4801-11
pubmed: 25034596
J Inherit Metab Dis. 2011 Feb;34(1):165-71
pubmed: 21153445
Lancet. 2010 Oct 23;376(9750):1417-27
pubmed: 20971365
Br J Ophthalmol. 2003 Aug;87(8):960-3
pubmed: 12881334
J Inherit Metab Dis. 2002 Sep;25(5):333-46
pubmed: 12408183
Quant Imaging Med Surg. 2016 Apr;6(2):125-33
pubmed: 27190764
JAMA Ophthalmol. 2015 Jan;133(1):45-50
pubmed: 25317632