Developmental abnormalities of the optic nerve and chiasm

Taylor, David

doi:10.1038/sj.eye.6702851

Cited by 51 publications

(39 citation statements)

References 72 publications

(70 reference statements)

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“…In fact, the optic cup in vivo is not radially symmetrical and exhibits molecular and architectural differences along the nasal-temporal and dorsalventral axes. For example, in addition to differential expression of region-specific markers (Graw, 2010;Fuhrmann, 2010), the ventral-most region of the optic cup in the embryo has a characteristic gapped structure called the choroid fissure, which is formed by complex morphogenetic processes, including NR fanning and RPE back-folding (Adler and Canto-Soler, 2007;) (this fissure later closes by fusion and defects in this process cause coloboma; Taylor, 2007). The proximal region of the embryonic optic cup becomes the optic stalk (Fuhrmann, 2010), which could provide an intrinsic constraint for morphogenesis, whereas the hinge region gives rise to the ciliary margin, which harbours retinal stem cells later (Reh and Fischer, 2006).…”

Section: Reconciling In Vitro and In Vivo Datamentioning

confidence: 99%

In vitro organogenesis in three dimensions: self-organising stem cells

2012

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SummaryOrgan formation during embryogenesis is a complex process that involves various local cell-cell interactions at the molecular and mechanical levels. Despite this complexity, organogenesis can be modelled in vitro. In this article, we focus on two recent examples in which embryonic stem cells can self-organise into three-dimensional structures -the optic cup and the pituitary epithelium; and one case of self-organising adult stem cells -the gut epithelium. We summarise how these approaches have revealed intrinsic programs that drive locally autonomous modes of organogenesis and homeostasis. We also attempt to interpret the results of previous in vivo studies of retinal development in light of the self-organising nature of the retina.

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Section: Reconciling In Vitro and In Vivo Datamentioning

confidence: 99%

In vitro organogenesis in three dimensions: self-organising stem cells

2012

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“…Signs include a small neuroretinal rim, abnormal shape of nerve, optic nerve pallor, double ring sign, peripapillary abnormalities, abnormal vascular pattern, increased tortuosity, small or absent cup, fewer than normal vascular branching points, and disc diameter to disc macula ratio less than 0.3 [6,7].…”

Section: Introductionmentioning

confidence: 99%

The optic nerve and peripapillary vasculature in albinism

Conley¹,

Mancera²,

Holleschau³

et al. 2016

New Front Ophthalmol

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Albinism, an inherited disorder resulting in reduced ocular melanin, is usually associated with reduced best-corrected visual acuity, nystagmus, foveal hypoplasia, and iris transillumination. However, a spectrum of findings has been reported, with foveal hypoplasia, nystagmus, and misrouting of the retinostriate fibers having been purported to cause reduced visual acuity. The purpose of this case-controlled study is to describe the optic nerve anatomy and peripapillary retinal vasculature in albinism and to determine if there are changes related to visual acuity. We evaluated digital fundus photographs using computer analysis software in 34 patients with albinism and 51 controls. Our data indicate that the optic disc diameter and optic nerve area are significantly smaller in patients with albinism than controls (p <0.001; p=0.0008, respectively). Significantly more patients with albinism also had a double ring sign, situs inversus, and a nasally-directed artery (p ≤ 0.0148). There were no significant differences between groups for optic nerve color, vessel branching pattern, cilioretinal artery, or number of vessels crossing the optic nerve margin. Correlation of best-corrected visual acuity to disc diameter and optic nerve area was poor (r=0.0542 r=0.1527, respectively). In this study, patients with albinism had mild optic nerve hypoplasia when compared to controls. Reduced best-corrected visual acuity is not explained by the optic nerve findings. Further studies are required to elucidate the causes of reduced best-corrected visual acuity in albinism.

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“…19 Provis at al 20 investigated the number of axons of the human fetal optic nerve and found that at least 70% regress during pregnancy. These findings led Mosier et al 12 and other investigators 14,18 to propose the hypothesis that ONH is the result of excessive RNFL regression. McCulley et al 21 suggested that ONH may be the result of retrograde RNFL degeneration from axons not proceeding into the contralateral tract at the chiasm.…”

Section: Optic Nerve Head Changesmentioning

confidence: 99%

“…23 Alternatively, there could be a simultaneous effect on both the retina and the optic nerve as a result of genetic or environmental perturbation. In agreement with previous histopathologic studies in ONH, we observed thinning of nasal RNFL and temporal and nasal GCL using SD OCT. 13,14 Retinal nerve fiber layer and GCL loss in the macula have been described in patients with acquired optic nerve atrophy. 24e26 However, in contrast to histopathologic studies of optic nerve atrophy acquired later in life, we observed that patients with hypoplastic optic nerves also had continuation of the GCL, IPL, and OPL at the fovea and a differently shaped central fovea compared with healthy controls.…”

Section: Foveal Changesmentioning

confidence: 99%

“…These findings were confirmed by other researchers. 13,14 To date, there are only a few articles investigating the in vivo eye morphology in ONH using optical coherence tomography (OCT). 15,16 In 2013, Moon and Park 16 described RNFL thinning and thinning of the structures located between the posterior boundary of the RNFL and the posterior boundary of the outer plexiform layer (OPL) of the retina measured together in 1 patient with ONH compared with the healthy eye using SD OCT.…”

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confidence: 99%

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High resolution imaging of the optic nerve and retina in optic nerve hypoplasia

Gottlob

Pilat

Sibley

et al. 2015

Journal of the Neurological Sciences

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Purpose: To investigate the optic nerve and macular morphology in patients with optic nerve hypoplasia (ONH) using spectral-domain optical coherence tomography (SD OCT).Design: Prospective, cross-sectional, observational study. Subjects: A total of 16 participants with ONH (10 female and 6 male; mean age, 17.2 years; 6 bilateral involvement) and 32 gender-, age-, ethnicity-, and refraction-matched healthy controls.Methods: High-resolution SD OCT (Copernicus [Optopol Technology S.A., Zawiercie, Poland], 3 mm resolution) and handheld SD OCT (Bioptigen Inc [Research Triangle Park, NC], 2.6 mm resolution) devices were used to acquire horizontal scans through the center of the optic disc and macula.Main Outcome Measures: Horizontal optic disc/cup and rim diameters, cup depth, peripapillary retinal nerve fiber layer (RNFL), and thickness of individual retinal layers in participants with ONH and in controls.Results: Patients with ONH had significantly smaller discs (P < 0.03 and P < 0.001 compared with unaffected eye and healthy controls, respectively), horizontal cup diameter (P < 0.02 for both), and cup depth (P < 0.02 and P < 0.01, respectively). In the macula, significantly thinner RNFL (nasally), ganglion cell layer (GCL) (nasally and temporally), inner plexiform layer (IPL) (nasally), outer nuclear layer (ONL) (nasally), and inner segment (centrally and temporally) were found in patients with ONH compared with the control group (P < 0.05 for all comparisons). Continuation of significantly thicker GCL, IPL, and outer plexiform layer in the central retinal area (i.e., foveal hypoplasia) was found in more than 80% of patients with ONH. Clinically unaffected fellow eyes of patients with ONH showed mild features of underdevelopment. Visual acuity and presence of septo-optic dysplasia were associated with changes in GCL and IPL. Sensitivity and specificity for the detection of ONH based on disc and retinal optical coherence tomography (OCT) parameters were >80%.Conclusions: Our study provides evidence of retinal changes in ONH. In addition to thinning of retina layers mainly involving the RNFL and GCL, signs reminiscent of foveal hypoplasia were observed in patients with ONH. Optic nerve and foveal parameters measured using OCT showed high sensitivity and specificity for detecting ONH, demonstrating their useful for clinical diagnosis. Ophthalmology 2015;-:1e10 ª

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Developmental abnormalities of the optic nerve and chiasm

Cited by 51 publications

References 72 publications

In vitro organogenesis in three dimensions: self-organising stem cells

In vitro organogenesis in three dimensions: self-organising stem cells

The optic nerve and peripapillary vasculature in albinism

High resolution imaging of the optic nerve and retina in optic nerve hypoplasia

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