Dataset Information

Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients.

ABSTRACT: Purpose: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. Methods: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) thickness, focal loss of volume (FLV), global loss of volume (GLV), peripapillary, papillary vessel density (VD), ocular axial length (AL) and intraocular pressure (IOP). Results:Among functional tests there were significant differences in contrast sensitivity at 1.5 (p < 0.001), 6 (p < 0.013), 12 (p < 0.001), 18 (p < 0.003) cycles per degree, in near stereoacuity (Titmus Wirt circles, p < 0.001) and in best corrected visual acuity (BCVA, p < 0.001). A statistically significant, moderate positive linear correlation was observed between BCVA and average Phe levels over the last ten years (? = 0.49, p < 0.001). The average (p < 0.001), superior (p < 0.001) inferior GCC (p < 0.001), the FLV (p < 0.003), GLV (p < 0.001) and the average RNFLT (p < 0.004) values of the PKU group were significantly lower than the controls. The serum phenylalanine level (Phe) in the PKU group negatively correlated with inferior (-0.32, p < 0.007), superior (r = -0.26, p < 0.028) and average (-0.29 p < 0.014) RNFL and with AL (-0.32, p < 0.026). In AL we detected a significant difference (p < 0.04) between the good and suboptimal dietary controlled group. There was no significant difference between the ETPKU and control group in the measured vessel density parameters and in IOP. Conclusions: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.

SUBMITTER: Serfozo C

PROVIDER: S-EPMC7516291 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients.

Serfozo Csilla C Barta Andras Gellert AG Horvath Endre E Sumanszki Csaba C Csakany Bela B Resch Miklos M Nagy Zoltan Zsolt ZZ Reismann Peter P

Molecular genetics and metabolism reports 20200922

<h4>Purpose</h4>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.<h4>Methods</h4>In this prospective, monocentric, cross-sectional, case-control study 50 patients with ETPKU and 50 healthy subjects were evaluated with OCT and OCTA ...[more]

PMID: 32995291

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Project description:PURPOSE:To investigate the role of sex on retinal nerve fiber layer (RNFL) thickness at 768 circumpapillary locations based on OCT findings. DESIGN:Population-based cross-sectional study. PARTICIPANTS:We investigated 5646 eyes of 5646 healthy participants from the Leipzig Research Centre for Civilization Diseases (LIFE)-Adult Study of a predominantly white population. METHODS:All participants underwent standardized systemic assessments and ocular imaging. Circumpapillary RNFL (cRNFL) thickness was measured at 768 points equidistant from the optic nerve head using spectral-domain OCT (Spectralis; Heidelberg Engineering, Heidelberg, Germany). To control ocular magnification effects, the true scanning radius was estimated by scanning focus. Student t test was used to evaluate sex differences in cRNFL thickness globally and at each of the 768 locations. Multivariable linear regression and analysis of variance were used to evaluate individual contributions of various factors to cRNFL thickness variance. MAIN OUTCOME MEASURES:Difference in cRNFL thickness between males and females. RESULTS:Our population consisted of 54.8% females. The global cRNFL thickness was 1 ?m thicker in females (P < 0.001). However, detailed analysis at each of the 768 locations revealed substantial location specificity of the sex effects, with RNFL thickness difference ranging from -9.98 to +8.00 ?m. Females showed significantly thicker RNFLs in the temporal, superotemporal, nasal, inferonasal, and inferotemporal regions (43.6% of 768 locations), whereas males showed significantly thicker RNFLs in the superior region (13.2%). The results were similar after adjusting for age, body height, and scanning radius. The superotemporal and inferotemporal RNFL peaks shifted temporally in females by 2.4° and 1.9°, respectively. On regions with significant sex effects, sex explained more RNFL thickness variance than age, whereas the major peak locations and interpeak angle explained most of the RNFL thickness variance unexplained by sex. CONCLUSIONS:Substantial sex effects on cRNFL thickness were found at 56.8% of all 768 circumpapillary locations, with specific patterns for different sectors. Over large regions, sex was at least as important in explaining the cRNFL thickness variance as was age, which is well established to have a substantial impact on cRNFL thickness. Including sex in the cRNFL thickness norm could therefore improve glaucoma diagnosis and monitoring.

Project description:ObjectiveTo evaluate the retinal nerve fiber layer (RNFL) and macular thicknesses and identify systemic risk factors for thinning of these layers in patients with metabolic syndrome (MetS).MethodologyA cross-sectional observational study was performed on patients diagnosed with MetS and compared to normal controls. All patients underwent ophthalmic and anthropometric examination, serological and biochemical blood investigations; and ocular imaging using spectral-domain optical coherence tomography. Patients with ocular pathology were excluded. Unpaired t-test was used to compare mean thickness between the two groups. One-way ANOVA with Bonferroni correction for multiple comparisons was used to compare mean thickness between different tertiles of MetS parameters, and a generalized estimating equation was used to correct for inter-eye correlation and to assess association between mean thickness and covariates.ResultsTwo hundred and forty-eight eyes from 124 participants (1:1 ratio of MetS patients to controls) were included. Age ranged between 30 to 50 years old, and mean age was 40 ± 6.6 years. RNFL thickness was lower globally (93.6 ± 9.9 μm vs 99.0 ± 9.3, p<0.001) and in the inferior (124.5 ± 17.5 μm vs 131.0 ± 16.4 μm, p = 0.002), superior (117.2 ± 16.0 μm vs 126.3 ± 14.4 μm, p<0.001) and temporal (65.5 ± 10.2 μm vs 69.5 ± 9.8, p = 0.002) sectors in MetS patients compared to controls. Only the central (237.0 ± 14.0 μm vs 243.6 ± 18.0 μm, p = 0.002) and inferior parafoveal (307.8 ± 20.9 vs 314.6 ± 14.6, p = 0.004) area of the macula was significantly thinner. The inferior RNFL sector had the most difference (mean difference = 9.1 μm). The Generalized Estimating Equation found that, after adjusting for age, diastolic blood pressure, BMI, HDL and obesity; the number of MetS components and elevated triglyceride levels were independent risk factors for reduced thickness in global RNFL (β = -4.4, 95% CI = -7.29 to -1.5, p = 0.003) and inferior parafovea (β = -6.85, 95% CI = -11.58 to -2.13, p = 0.004) thickness respectively.ConclusionRNFL thinning was seen more than macula thinning in MetS patients, suggesting RNFL susceptibility to neurodegeneration than the macula. A higher number of metabolic components and elevated triglyceride levels were independent risk factors for retinal thinning in this group of patients.

Project description:ObjectiveThis study aimed to compare the peripapillary retinal nerve fiber layer (pRNFL) thickness and macular thickness (MT) between patients with non-diabetic chronic kidney disease (NDCKD) and controls, as well as between different stages of NDCKD. We also evaluated the correlation between pRNFL thickness and MT with duration of NDCKD.MethodsThis was a comparative cross-sectional study. Subjects were divided into NDCKD and control groups. Both pRNFL thickness and MT, including center subfield thickness (CST), average MT as well as average ganglion cell-inner plexiform layer (GC-IPL) were measured using spectral-domain optical coherence tomography. One-way ANCOVA test was used to compare the differences in pRNFL and MT between NDCKD and controls, as well as between the different stages of NDCKD. Spearman rank-order correlation coefficients were employed to determine the effects of NDCKD duration on pRNFL thickness and MT.ResultsA total of 132 subjects were recruited, 66 with NDCKD and 66 controls. There was a statistically significant difference in superior (110.74 ± 23.35 vs 117.36 ± 16.17 μm, p = 0.022), nasal (65.97 ± 12.90 vs 69.35 ± 10.17 μm, p = 0.006), inferior quadrant (117.44 ± 23.98 vs 126.15 ± 14.75 μm, p = 0.006), average pRNFL (90.36 ± 14.93 vs 95.42 ± 9.87 μm, p = 0.005), CST (231.89 ± 26.72 vs 243.30 ± 21.05 μm, p = 0.006), average MT (268.88 ± 20.21 vs 274.92 ± 12.79 μm, p = 0.020) and average GC-IPL (75.48 ± 12.44 vs 81.56 ± 6.48, p = 0.001) values between the NDCKD group and controls. The superior quadrant (p = 0.007), nasal quadrant (p = 0.030), inferior quadrant (p = 0.047), average pRNFL (p = 0.006), average MT (p = 0.001) and average GC-IPL (p = 0.001) differed significantly between different stages of NDCKD. There was no correlation between pRNFL thickness and MT with duration of NDCKD.ConclusionCST, average MT, average GC-IPL thickness, average pRNFL and all quadrants of pRNFL except the temporal quadrant were significantly thinner in NDCKD patients compared to controls. These changes were associated with the severity of CKD, but not its duration.

Dataset Information

Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients.

Publications

Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients.

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