Mutations in the <i>NDP</i> gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

Dickinson, Joanne L.; Sale, Michèle M.; Passmore, Abraham; FitzGerald, Liesel M.; Wheatley, Catherine; Burdon, Kathryn P.; Craig, Jamie E; Tengtrisorn, Supaporn; Carden, Susan M.; MacLean, Helen E.; Mackey, David A.

doi:10.1111/j.1442-9071.2006.01314.x

Cited by 75 publications

(43 citation statements)

References 30 publications

(50 reference statements)

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“…Other individuals with mutations in LAMB2 and Pierson syndrome exhibit retinal vascular defects (Bredrup et al, 2008). Recent reports also suggest a possibility of the role of various genetic mutations in other diseases, such as familial exudative vitreoretinopathy and retinopathy of prematurity (Dickinson et al, 2006). It will be worthwhile verifying the possibilities of mutations in laminin genes in proliferative retinopathies in order to better understand the pathology in these diseases.…”

Section: Laminins Are Necessary For Retinal Vascular Developmentmentioning

confidence: 98%

Laminins containing the β2 and γ3 chains regulate astrocyte migration and angiogenesis in the retina

et al. 2013

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SUMMARYPathologies of retinal blood vessels are among the major causes of blindness worldwide. A key cell type that regulates retinal vascular development is the astrocyte. Generated extrinsically to the retina, astrocytes migrate into the retina through the optic nerve head. Even though there is a strong correlation between astrocyte distribution and retinal vascular development, the factors that guide astrocytes into the retina remain unclear. In this study, we show that astrocytes migrate within a laminin-containing basement membrane -the inner limiting membrane. Genetic deletion of the laminin β2 and γ3 chains affects astrocyte migration and spatial distribution. We show that laminins act as haptotactic factors in vitro in an isoform-specific manner, inducing astrocyte migration and promoting astrocyte differentiation. The addition of exogenous laminins to laminin-null retinal explants rescues astrocyte migration and spatial patterning. Furthermore, we show that the loss of laminins reduces β1 integrin expression in astrocytes. Culturing lamininnull retinal astrocytes on laminin substrates restores focal localization of β1 integrin. Finally, we show that laminins containing β2 and γ3 chains regulate subsequent retinal blood vessel growth and maintain vascular integrity. These in vivo and in vitro studies demonstrate clearly that laminins containing β2 and γ3 chains are indispensable for migration and spatial organization of astrocytes and that they play a crucial role during retinal angiogenesis in vivo. RESEARCH ARTICLELaminins regulate angiogenesis treatment with exogenous laminins rescues astrocyte migration and spatial patterning phenotype ex vivo. Together, these data support the hypothesis that β2-and γ3-containing laminins are important cues in retinal vascular development.

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Section: Laminins Are Necessary For Retinal Vascular Developmentmentioning

confidence: 98%

Laminins containing the β2 and γ3 chains regulate astrocyte migration and angiogenesis in the retina

et al. 2013

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“…The vitreoretinal signs seen in ROP are almost identical to those seen in FEVR. 39 RDs are a common finding in FEVR and occur in 21-64% of affected individuals. [36][37][38]40,41 They can be rhegmatogenous, tractional, or serous in nature.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…98,[99][100][101] These findings suggest that FEVR genes may be implicated in ROP disease; however, several small gene association studies have been carried out which have not supported this hypothesis. [102][103][104][105] Further larger studies are required before any definitive conclusions can be made regarding the association of specific genetic variants and severity of ROP.…”

Section: Retinopathy Of Prematuritymentioning

confidence: 99%

Familial exudative vitreoretinopathy and related retinopathies

Gilmour

2014

Eye

217

175

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Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease. Expressivity may be asymmetric and is highly variable. Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (autosomal dominant and recessive), LRP5 (autosomal dominant and recessive), TSPAN12 (autosomal dominant and recessive), and ZNF408 (autosomal dominant). Four of these genes have been shown to have a central role in Norrin/Frizzled4 signalling, suggesting a critical role for this pathway in retinal angiogenesis. In addition to the ocular features, LRP5 mutations can cause osteopenia and osteoporosis. All FEVR patients in whom molecular testing is not easily accessible should have dual energy X-ray absorptiometry (DEXA) scans to assess bone mineral density, as treatment can be initiated to reduce the risk of bone fractures.

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“…There are several studies assuming that the condition is idiopathic without a familial link [1,2,15] whereas others suggest that there may be a genetic cause [16,17,18]. Specifically, it is hypothesized that Coats’ disease could be a consequence of a mutation in the NDP gene, which results in a deficiency of norrin, a protein thought to be important for normal retinal vasculogenesis [16,17,18].…”

Section: Pathogenesis and Classificationmentioning

confidence: 99%

Diagnosis and Treatment of Coats’ Disease: A Review of the Literature

2012

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Coats’ disease is an idiopathic, ophthalmic condition characterized by retinal telangiectasis, intraretinal and subretinal exudation, which can lead to retinal detachment. It is mostly unilateral, progressive and affects mainly males during childhood, although adult cases have also been described. In this review, we make an update of the literature about Coats’ disease, emphasizing on diagnosis and treatment, including the most recent treatment modalities, i.e. anti-vascular endothelial growth factor agents.

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Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

Cited by 75 publications

References 30 publications

Laminins containing the β2 and γ3 chains regulate astrocyte migration and angiogenesis in the retina

Laminins containing the β2 and γ3 chains regulate astrocyte migration and angiogenesis in the retina

Familial exudative vitreoretinopathy and related retinopathies

Diagnosis and Treatment of Coats’ Disease: A Review of the Literature

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