Association of SIX1-SIX6 polymorphisms with peripapillary retinal nerve fibre layer thickness in children

2022 ◽  
pp. bjophthalmol-2021-319756
Author(s):  
Shi Yao Lu ◽  
Xiu Juan Zhang ◽  
Yu Meng Wang ◽  
Nan Yuan ◽  
Ka Wai Kam ◽  
...  
Keyword(s):  
Nerve Fibre ◽  
Retinal Nerve Fibre Layer ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Retina Development ◽  
Specific Effects ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Nerve Fibre Layer

PurposeAssociation of SIX1-SIX6 variants with peripapillary retinal nerve fibre layer (p-RNFL) thickness had been reported in adults. This study aimed to investigate these associations in children, with further explorations by spatial, age and sex stratifications.Methods2878 school children aged between 6 and 9 years were enrolled from the Hong Kong Children Eye Study. Three single-nucleotide polymorphisms (SNPs) at the SIX1-SIX6 locus were genotyped. The association of each SNP with p-RNFL thickness (including global and sectoral thickness) were evaluated using multiple linear regression.ResultsSNPs rs33912345 (p=7.7×10−4) and rs10483727 (p=0.0013) showed significant associations with temporal-inferior p-RNFL thickness. The C allele of rs33912345 was associated with a thinner temporal-inferior p-RNFL by an average of 2.44 µm, while rs10483727-T was associated with a thinner temporal-inferior p-RNFL by 2.32 µm. The association with temporal-inferior p-RNFL was the strongest in the 8–9 year-old group for rs33912345 (p=5.2×10−4) and rs10483727 (p=3.3×10−4). Both SNPs were significantly associated with temporal-inferior p-RNFL thickness in boys (p<0.0017), but not in girls (p>0.05). In contrast, rs12436579-C (β=1.66; p=0.0059), but not rs33912345-C (β=1.31; p=0.052) or rs10483727-T (β=1.19; p=0.078), was nominally associated with a thicker nasal-inferior p-RNFL.ConclusionsBoth rs33912345 and rs10483727 at SIX1-SIX6 were associated with p-RNFL thickness in children, especially at the temporal-inferior sector, with age-dependent and sex-specific effects. SNP rs12436579 was associated with nasal-inferior p-RNFL thickness. Our findings suggested a role of SIX1-SIX6 in RNFL variation during neural retina development in childhood.

scholarly journals Comparison of a commercial spectral-domain OCT and swept-source OCT based on an angiography scan for measuring circumpapillary retinal nerve fibre layer thickness

2019 ◽  
Vol 104 (7) ◽  
pp. 974-979 ◽  
Author(s):  
Bingyao Tan ◽  
Jacqueline Chua ◽  
Thiyagrajan Harish ◽  
Amanda Lau ◽  
Alfred Tau Liang Gan ◽  
...  
Keyword(s):  
Nerve Fibre ◽  
Excellent Agreement ◽  
Retinal Nerve Fibre Layer ◽  
Spectral Domain ◽  
Wide Field ◽  
Swept Source ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Nerve Fibre Layer ◽  
Sd Oct

Background/aimsTo assess the agreement in measuring retinal nerve fibre layer (RNFL) thickness between spectral-domain (SD; Cirrus HD, Carl Zeiss Meditec, USA) optical coherence tomography (OCT) and swept-source (SS; Plex Elite 9000, Carl Zeiss Meditec) OCT using an OCT angiography (OCTA) scanning protocol.Methods57 participants (12 glaucomatous, 8 ocular hypertensive and 74 normal eyes) were scanned with two OCT instruments by a single experienced operator on the same day. Circumpapillary RNFL thicknesses were automatically segmented for SD-OCT and manually segmented for SS-OCTA scans. Agreement of global RNFL thickness, as well as average thickness in four quadrants was assessed using intraclass correlation coefficients (ICCs).ResultsThere was excellent agreement in the inferior and superior quadrants and the global (all ICC >0.90), followed by good agreement in the temporal (ICC=0.79) and nasal (ICC=0.73) quadrants. The ICC values were similar in the subgroups except within the ocular hypertension group, where the nasal quadrant was less agreeable (ICC=0.31). SS-OCTA-derived RNFL thickness was on average 3 µm thicker than SD-OCT, particularly in the nasal (69.7±11.5 µm vs 66.3±9.3 µm; p<0.001) and temporal (75.6±13.7 µm vs 67.9±12.3 µm; p<0.001) quadrants.ConclusionsRNFL measurements taken with SS-OCTA have good-to-excellent agreement with SD-OCT, which suggests that the RNFL thickness can be sufficiently extracted from wide-field OCTA scans.

Genetic influence on macular retinal nerve fibre layer thickness according to retinal subfield

2020 ◽  
Vol 104 (10) ◽  
pp. 1448-1452 ◽  
Author(s):  
Sungsoon Hwang ◽  
Mingui Kong ◽  
Hyeonyoung Ko ◽  
Don-Il Ham ◽  
Yun-Mi Song
Keyword(s):  
Nerve Fibre ◽  
Intraclass Correlation ◽  
Family Relationship ◽  
Genetic Effect ◽  
Retinal Nerve Fibre Layer ◽  
Genetic Influence ◽  
Cross Sectional ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Nerve Fibre Layer

Background/aimCharacterising genetic effect on macular retinal nerve fibre layer (RNFL) is needed to obtain better understanding of various retinopathies and optic neuropathies. The purpose of this study was to evaluate genetic influence on macular RNFL thickness.MethodsThis is a cross-sectional, twin and family study. Three hundred and sixty-two Korean adults with healthy eyes were included in the study from 79 households with two or more family members. Macular RNFL thickness was measured with optical coherence tomography at nine macular subfields defined by the ETDRS. Intraclass correlation coefficients (ICCs) were estimated to assess intrafamilial resemblance of RNFL thickness by different types of family relationship. Heritability of RNFL thickness was evaluated using variance decomposition model.ResultsRNFL thickness increased from central subfield to outer subfields. Temporal quadrant RNFL was thinner compared with other quadrants. Monozygotic twin pairs showed the highest ICCs of RNFL thickness, although the ICC level varied across different subfields. Heritability of RNFL thickness was the highest at central subfield (0.81). RNFL thicknesses of outer subfields were moderately to highly heritable: 0.53, 0.71, 0.47 and 0.66 for superior, inferior, temporal and nasal fields, respectively. RNFL thicknesses at inner subfields showed the lowest heritability: 0.21, 0.24, 0.27 and 0.27 for superior, inferior, temporal and nasal subfields, respectively.ConclusionMacular RNFL thickness is significantly influenced by genetic factors. It varies largely by subfields with the highest heritability at the central subfield and a relatively lower heritability at inner subfields.

scholarly journals Correlation between Retinal Nerve Fibre Layer Thickness and Glycosylated Haemoglobin in Non Proliferative Diabetic Retinopathy

QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
Alshaimaa M Lotfy ◽  
A H Saad ◽  
T H Mohamed ◽  
Y A Elzankalony
Keyword(s):  
Optical Coherence Tomography ◽  
Diabetic Retinopathy ◽  
Nerve Fibre ◽  
Proliferative Diabetic Retinopathy ◽  
Retinal Nerve Fibre Layer ◽  
Glycosylated Haemoglobin ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Severe Group ◽  
Nerve Fibre Layer

Abstract Background Diabetes mellitus is a metabolic disorder characterized by chronic hyperglyaemia. Diabetes cause many complication. diabetic retinopathy is common complication which affects up to 80 percent of all patients who have diabetes for more than10 years or more. Retinal functional abnormalities as reduced contrast sensitivity and ERG abnormalities could be detected in diabetic patients before microvascular lesions can be detected in ophalmological examination. Purpose to determine correlation between retinal nerve fibre layer thickness measured by Optical coherence tomography and glycosylated haemoglobin in type 2 non proliferative diabetic retinopathy. Patients and Methods In our study was conducted on patient recruited from National institute of Diabetes and endocrinology in the ophthalmic clinic. Patients were evaluated for peri-papillary retinal nerve fibre layer ( RNFL) thickness by optical coherence tomography (RS 3000 advance). Blood were taken for HbA1c. The study was included 164 eyes from 87 patients. The patients were non proliferative diabetic retinopathy(NPDR) classified into three groups according to Early Treatment Diabetic Retinopathy Study into; Mild group was 69 eyes from 35 patients, moderate group58 eyes from 31 patient, Severe group 37 eyes from 21 patients. Results The severe group show statistically significant difference with the others (P &lt; 0.001) except with mild group in nasal and inferior quadrant, therefore the thickness was high in the severe groups because the edema in RNFL. In our study we observed decrease in total thickness of RNFL in peripapillary area. However, among each quadrant we observed that the superior quadrant was thinner compared to other quadrants (p &lt; 0.001). There was insignificant correlation between RNFL thickness with the Glycosylated haemoglobin ( HbA1c )in all NPDR groups. Conclusion Early NPDR patients appear to have thinner RNFL thickness and severe NPDR patients show increasing RNFL thickness. There are not correlation between RNFL thickness and glycosylated haemoglobin.

scholarly journals Factors Associated with Changes in Peripapillary Retinal Nerve Fibre Layer Thickness in Healthy Myopic Eyes

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Jianli Du ◽  
Yang Du ◽  
Yanyan Xue ◽  
He Wang ◽  
Yaping Li
Keyword(s):  
Nerve Fibre ◽  
Open Angle Glaucoma ◽  
False Positive Rate ◽  
Clinical Signs ◽  
Retinal Nerve Fibre Layer ◽  
Retinal Blood Flow ◽  
Glaucoma Diagnosis ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Nerve Fibre Layer

Myopic people face an elevated risk of primary open angle glaucoma. Changes in the fundus in people with high myopia often lead to misdiagnosis of glaucoma, as this condition has many clinical signs in common with myopia, making the diagnosis of glaucoma more challenging. Compared to reduction of the visual field, a decrease in retinal nerve fibre layer (RNFL) thickness occurs earlier in glaucoma, which is widely considered useful for distinguishing between these conditions. With the development of optical coherence tomography (OCT), RNFL thickness can be measured with good reproducibility. According to previous studies, this variable is not only affected by axial length but also related to the patient’s age, gender, ethnicity, optic disc area, and retinal blood flow in myopia. Herein, we intend to summarize the factors relevant to the RNFL in myopia to reduce the false-positive rate of glaucoma diagnosis and facilitate early prevention of myopia.

Συμβολή στη μελέτη των επιπτώσεων της κυστικής ίνωσης στους οφθαλμούς

2021 ◽  
Author(s):  
Παναγιώτης Γιαννακούρας
Keyword(s):  
Nerve Fibre ◽  
Retinal Nerve Fibre Layer ◽  
Macular Thickness ◽  
Spectral Domain ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Break Up ◽  
Nerve Fibre Layer

Σκοπός: H Κυστική Ίνωση αποτελεί την πιο κοινή γενετική διαταραχή στην Καυκάσια φυλή που κληρονομείται με υπολειπόμενο χαρακτήρα και μπορεί να οδηγήσει τελικά στο θάνατο. Προσβάλλει κυρίως τους πνεύμονες. Ο σκοπός της εργασίας αυτής ήταν να μελετηθεί η προσβολή του οφθαλμού σε ασθενείς με Κυστική Ίνωση στον ελληνικό πληθυσμό.Μέθοδος: Πενήντα ενήλικοι ασθενείς με Κυστική Ίνωση και 60 υγιείς εθελοντές αντίστοιχης ηλικίας και φύλου, συμπεριλήφθηκαν στη μελέτη και υποβλήθηκαν σε πλήρη οφθαλμολογικό έλεγχο που περιελάμβανε την αξιολόγηση του χρόνου διάσπασης της δακρυϊκής στιβάδας, τη μέτρηση του πάχους της ωχράς κηλίδας και της στιβάδας των νευρικών ινών του αμφιβληστροειδούς (Macular Thickness and Retinal Nerve Fibre Layer-RNFL-thickness) με τη χρήση Spectral Domain-OCT.Αποτελέσματα: Οι ασθενείς με Κυστική Ίνωση παρουσίασαν στατιστικά μικρότερο πάχος των νευρικών ινών του αμφιβληστροειδούς γύρω από την περιθηλαία περιοχή (median 82 IQR 67-102 vs 92.5 IQR 82-107, p=0.005) και μικρότερο ποσοστό φυσιολογικού χρόνου διάσπασης χρωστικής της δακρυϊκής στιβάδας (56.0% vs 96.7%,p=0.001) σε σχέση με την ομάδα εθελοντών. Όλοι οι ασθενείς με Κυστική Ίνωση με χρόνο διάσπασης χρωστικής μικρότερο από 10 δευτερόλεπτα διεγνώσθησαν με βλεφαρίτιδα κατά τη διάρκεια της οφθαλμολογικής εξέτασης. Η ομάδα των ασθενών που ήταν ομόζυγοι για την πιο γνωστή μετάλλαξη της Κυστικής Ίνωσης, F508del, παρουσίασαν χαμηλότερο πάχος της στιβάδας των νευρικών ινών του αμφιβληστροειδούς γύρω από την περιθηλαία περιοχή, pRNFL thickness (p=0.014) και χαμηλότερο ποσοστό φυσιολογικού χρόνου διάσπασης της χρωστικής στη δακρυϊκή στιβάδα, normal tear Break-Up Time (p=0.001). Επιπλέον ευρήματα, παρόντα μόνο στην ομάδα των ασθενών της Κυστικής Ίνωσης ήταν στικτές αμφιβληστροειδικές αιμορραγίες (4 ασθενείς), ελίκωση των αγγείων (4 ασθενείς), αμφιβήστροειδικές αλλοιώσεις δίκην κοχλίου ή θυσάνου (2 ασθενείς χωρίς διαθλαστικές διαταραχές). Δεν εντοπίστηκαν σημαντικές διαφορές στην αξιολόγηση της οπτικής οξύτητας, στις διαθλαστικές μετρήσεις, στα γωνιοσκοπικά ευρήματα ή στη μέτρηση της ενδοφθάλμιας πίεσης μεταξύ των 2 ομάδων.Συμπεράσματα: Η εργασία αυτή, απ’όσο είμαστε σε θέση να γνωρίζουμε, αποτελεί τη μεγαλύτερη οφθαλμολογική μελέτη ασθενών με Κυστική Ίνωση. Βρέθηκε ότι οι ασθενείς με ΚΙ εμφάνισαν στατιστικά σημαντικά μικρότερο πάχος της στιβάδας των νευρικών ινών του αμφιβληστροειδούς γύρω από την περιθηλαία περιοχή και μικρότερο ποσοστό φυσιολογικών τιμών χρόνου διάσπασης χρωστικής της δακρυϊκής στιβάδας σε σχέση με την ομάδα που αποτέλεσε τους εθελοντές. Υπογραμμίζουμε τη σημασία της προσεκτικής τακτικής οφθαλμολογικής εξέτασης και παρακολούθησης αυτών των ασθενών.

Factors affecting the diagnostic performance of circumpapillary retinal nerve fibre layer measurement in glaucoma

2020 ◽  
pp. bjophthalmol-2020-315985 ◽  
Author(s):  
Damon Wong ◽  
Jacqueline Chua ◽  
Mani Baskaran ◽  
Bingyao Tan ◽  
Xinwen Yao ◽  
...  
Keyword(s):  
Diagnostic Accuracy ◽  
Nerve Fibre ◽  
Disease Severity ◽  
Healthy Subjects ◽  
Diagnostic Performance ◽  
Retinal Nerve Fibre Layer ◽  
Automated Perimetry ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Nerve Fibre Layer

Background/aimsTo identify factors that influence the diagnostic performance of circumpapillary retinal nerve fibre layer (RNFL) thickness measurements in the detection of primary open-angle glaucoma (POAG).Methods1592 eyes from 1076 healthy controls and 758 eyes from 502 patients with POAG underwent optical coherence tomography (OCT) imaging to assess RNFL parameters. Visual field (VF) mean deviation (MD) from standard automated perimetry was used to indicate severity in subjects with glaucoma.ResultsRNFL thickness significantly decreased with age (ρ=−0.10 to −0.16, p<0.001) and increased with spherical equivalent (SE) refractive error (ρ=0.23–0.29, p<0.001) in healthy and glaucoma groups but showed a significant reduction with SE (ρ=−0.20, p<0.001) in the temporal RNFL of healthy subjects. RNFL measurements significantly decreased with VF MD (ρ=0.08–0.53, p<0.05) in subjects with POAG. When healthy subjects and subjects with glaucoma were matched to subgroups within a factor, significant differences in area under the curve (AUC) between subgroups were only found with SE AUCs increased significantly with disease severity, particularly in the global, inferior and superior measurements (p<0.001). Overall, the diagnostic performance of the inferior and global RNFL measurements were found to be more resilient to different factors.ConclusionDiagnostic accuracy in glaucoma was influenced by SE but could be mitigated by using controls with similar refractive characteristics. Increasing disease severity led to significantly better diagnostic accuracy. These factors should be considered when using OCT for glaucoma diagnosis in practice.

Associations between systemic health and retinal nerve fibre layer thickness in preterm infants at 36 weeks postmenstrual age

2021 ◽  
pp. bjophthalmol-2021-319254
Author(s):  
Liangbo L Shen ◽  
Shwetha Mangalesh ◽  
Suzanne M Michalak ◽  
Brendan McGeehan ◽  
Neeru Sarin ◽  
...  
Keyword(s):  
Nerve Fibre ◽  
Preterm Infants ◽  
Retinal Nerve Fibre Layer ◽  
Univariable Analysis ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Health Factors ◽  
Postmenstrual Age ◽  
Nerve Fibre Layer ◽  
Systemic Health

Background/aimsNeonatal insults from systemic diseases have been implicated in the pathway of impaired neurodevelopment in preterm infants. We aimed to investigate the associations between systemic health factors and retinal nerve fibre layer (RNFL) thickness in preterm infants.MethodsWe prospectively enrolled infants and imaged both eyes at 36±1 weeks postmenstrual age (PMA) using a hand-held optical coherence tomography system at the bedside in the Duke intensive care nurseries. We evaluated associations between RNFL thickness and 29 systemic health factors using univariable and multivariable regression models.Results83 infants with RNFL thickness measures were included in this study. Based on the multivariable model, RNFL thickness was positively associated with infant weight at imaging and was negatively associated with sepsis/necrotising enterocolitis (NEC). RNFL thickness was 10.4 µm (95% CI −15.9 to −4.9) lower in infants with than without sepsis/NEC in the univariable analysis (p<0.001). This difference remained statistically significant after adjustment for confounding variables in various combinations (birth weight, birthweight percentile, gestational age, infant weight at imaging and growth velocity). A 250 g increase in infant weight at imaging was associated with a 3.1 µm (95% CI 2.1 to 4.2) increase in RNFL thickness in the univariable analysis (p<0.001).ConclusionsLow infant weight and sepsis/NEC were independently associated with thinner RNFL in preterm infants at 36 weeks PMA. To our knowledge, this study is the first to suggest that sepsis/NEC may affect retinal neurodevelopment. Future longitudinal studies are needed to investigate this relationship further.

Progressive retinal nerve fibre layer thinning and choroidal microvasculature dropout at the location of disc haemorrhage in glaucoma

2020 ◽  
pp. bjophthalmol-2020-316169
Author(s):  
Chung Young Kim ◽  
Eun Ji Lee ◽  
Ji-Ah Kim ◽  
Hyunjoong Kim ◽  
Tae-Woo Kim
Keyword(s):  
Nerve Fibre ◽  
Open Angle Glaucoma ◽  
Retinal Nerve Fibre Layer ◽  
Microvascular Network ◽  
Swept Source ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Disc Haemorrhage ◽  
Nerve Fibre Layer ◽  
Cumulative Prevalence

Background/AimsTo investigate whether parapapillary choroidal microvasculature dropout (MvD) is associated with progressive retinal nerve fibre layer (RNFL) thinning in eyes with primary open-angle glaucoma (POAG) and disc haemorrhage (DH).MethodsParapapillary microvasculature was evaluated by swept-source optical coherence tomography (OCT) angiography (OCTA) in 50 eyes with POAG and DH, 1 year before, at the time of and 1 year after the detection of DH. MvD was defined as an area in the parapapillary deep layer of focal sectoral dropout with no visible microvascular network. Progressive changes in OCT RNFL thickness were compared in groups of eyes with and without MvD.ResultsCumulative prevalence of MvD was 76.0% (38 eyes) at 1 year after detection of DH. All MvDs were detected in the same sectoral locations as DH. In eyes with MvD, global RNFL thickness and sectoral RNFL thickness at the location of DH were significantly reduced, both from 1 year before to the time of DH detection (both p<0.001) and from DH detection to 1 year later (both p<0.001). In eyes without MvD, however, the reductions in global (p=0.011) and sectoral (p=0.007) RNFL thickness were significant only from DH detection to 1 year later.ConclusionIn eyes with POAG, RNFL thinning was spatially consistent and progressive at the location of MvD accompanied by subsequent DH and continued to progress after the occurrence of DH. When DH was not accompanied by MvD, progressive RNFL thinning was more likely to occur after the detection of DH.

scholarly journals Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography

2020 ◽  
Author(s):  
Michael Reich ◽  
Jan Lübke ◽  
Lutz Joachimsen ◽  
Julia Stifter ◽  
Sebastian Küchlin ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Optic Disc ◽  
Nerve Fibre ◽  
Retinal Nerve Fibre Layer ◽  
Optical Coherence ◽  
Stargardt Disease ◽  
Rnfl Thickness ◽  
Fibre Layer ◽  
Manual Adjustment ◽  
Nerve Fibre Layer

Abstract Purpose To evaluate peripapillary retinal nerve fibre layer (RNFL) thickness measured by spectral domain optical coherence tomography (OCT) in patients with Stargardt disease (STGD). Methods A cross-sectional, monocentric, observational case-control study. Twenty patients (39 eyes) with ABCA4 mutations graded according to the Fishman STGD classification were included. RNFL measurement was performed using Heidelberg Spectralis SD-OCT. RNFL thickness in STGD patients was compared to age-matched data of healthy individuals provided by the device’s manufacturer. A manual readjustment of the optic disc-fovea angle was performed when needed. Results The mean age at first diagnosis of STGD was 22.9 years (range 9 to 50) and 39.1 years (range 18 to 74) at the time of examination. Thirty-nine percent of eyes (15 eyes) needed manual adjustment of the optic disc-fovea angle due to malfixation of the patients during OCT. The temporal quadrant corresponding to the macula showed a RNFL 16% thinner than controls (mean − 12 μm, 95%CI − 9 to −15 μm). However, global RNFL thickness did not differ from controls due to increased RNFL thickness of 12% in the nasal sectors. Duration and stage of STGD were not correlated to thinner RNFL. Conclusion STGD seems to be associated with thinner peripapillary RNFL in the sector of axons projecting to the degenerated macular area. It is yet unclear as to whether this results from anterograde transneuronal degeneration of direct injury to retinal ganglion cells.

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