Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina

Nouhuys, C. E. van

doi:10.1007/bf00183127

Cited by 16 publications

(5 citation statements)

References 115 publications

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“…Familial exudative vitreoretinopathy (FEVR) is a rare inheritable disorder of retinal vascular development, first described by Criswick and Schepens in 1969 . It has been demonstrated that patients with FEVR can have variable presentations, ranging from subtle avascularity of peripheral retina to retinal folds . Two prominent features of FEVR are intrafamilial variability and disease asymmetry …”

Section: Introductionmentioning

confidence: 72%

Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort

et al. 2019

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IMPORTANCE Familial exudative vitreoretinopathy (FEVR) with only-unilateral abnormalities may masquerade as other vitreoretinal disorders. Clinicians should be vigilant of patients with unilateral FEVR, recognizing that the relatively normal vision of the fellow eye could compromise a patient's attention to the decreasing vision of the affected eye.OBJECTIVE To describe the clinical findings and genetic spectrum of patients with FEVR and only-unilateral abnormalities.

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Section: Introductionmentioning

confidence: 72%

Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort

et al. 2019

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“…The disease has a high penetrance and highly variable expressivity. In the majority of cases, it is inherited as an autosomal‐dominant trait [3], but more recently, families with autosomal‐recessive [4,5] and X‐linked forms [6,7] have been reported. While the autosomal‐recessive disorder has not been mapped to date, autosomal‐dominant FEVR (ad FEVR) has been tentatively localized to 11q13 [8,9] and the X‐linked disorder has been shown to be allelic to the Norrie disease in some families [10,11].…”

Section: Pairwise Linkage Resultsmentioning

confidence: 99%

Linkage and candidate gene analysis of autosomal‐dominant familial exudative vitreoretinopathy

Shastry¹,

Hejtmancik²,

Hiraoka³

et al. 2000

Clinical Genetics

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“…Families with FEVR display several forms of inheritance. The most common form is autosomal dominant (187,188), but autosomal recessive (189,190) and X-linked inheritance have also been described (191)(192)(193).…”

Section: Human Ocular Disease and The Wnt Signaling Pathwaymentioning

confidence: 99%

WNT/Frizzled signaling in eye development and disease

Iongh

Abud²,

Hime³

2006

Front Biosci

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The canonical Wnt/Fzd signaling pathway is highly conserved among various species. Increasing evidence is accumulating for non-canonical Wnt signaling pathways, analogous to those discovered in Drosophila, being operative in vertebrates. Similarly, the networks of genes involved in eye development show significant conservation during evolution. The amenability of Drosophila for genetic manipulation and analysis of ocular phenotypes has delivered a great deal of information about the roles of the Wnt/Fzd signaling pathways at various stages of ocular development and growth, particularly in regulating the formation and size of the eye field, cell proliferation, polarity and differentiation. In addition to the numerous recent studies that have identified the expression of various components of these signaling pathways in the developing vertebrate eye, functional studies have revealed significant parallels in the way that Wnt/Fz signals regulate the formation of the vertebrate eye field and also the proliferation and differentiation of cells, particularly in the lens and retina. Significant advances have also recently been made in identifying mutations in these signaling pathways that underlie or contribute to various ocular diseases such as exudative vitreoretinopathy, retinal degenerations, cataract, ocular tumors and various congenital ocular malformations. Combined with the mechanistic studies in vertebrate and invertebrate models, these studies point to important functional roles for Wnt/Fzd pathways in the human eye. Further investigation of how these pathways function during eye development and growth may yield important insights into novel therapeutic approaches to treat or prevent diseases that cause blindness.

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Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina

Cited by 16 publications

References 115 publications

Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort

Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort

Linkage and candidate gene analysis of autosomal‐dominant familial exudative vitreoretinopathy

WNT/Frizzled signaling in eye development and disease

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