1982
DOI: 10.1007/bf00681132
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Dominante exsudatieve vitreoretinopathie en andere vasculaire ontwikkelingsstoornissen van de perifere retina

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Cited by 63 publications
(14 citation statements)
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“…Newly discovered mutations in ZNF408 have also been shown to lead to disease 7 . Expressivity is variable, and patients can present with widely different appearances between eyes as presented in this case 3 . The disparity of presentation between the eyes can make the distinction between FEVR and other unilateral pediatric diseases, such as PFV, difficult to make, leading to incorrect or incomplete treatment.…”
Section: Discussionmentioning
confidence: 91%
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“…Newly discovered mutations in ZNF408 have also been shown to lead to disease 7 . Expressivity is variable, and patients can present with widely different appearances between eyes as presented in this case 3 . The disparity of presentation between the eyes can make the distinction between FEVR and other unilateral pediatric diseases, such as PFV, difficult to make, leading to incorrect or incomplete treatment.…”
Section: Discussionmentioning
confidence: 91%
“…In more severe stages of disease, reported presentations include subretinal and intraretinal exudates with retinal detachments, macula ectopia, epiretinal membranes and retinal folds 1 . The phenotypic expression of FEVR can differ greatly in eyes of the same individual, but some evidence of disease is often present bilaterally 3 .…”
Section: Introductionmentioning
confidence: 99%
“…It is reported that congenital retinal fold is not a single clinical entity, but can be a manifestation of a diverse group of conditions (van Nouhuys 1982a). Familial exudative vitreoretinopathy (FEVR; MIM 133780) and microcephaly are frequently associated with congenital retinal fold (van Nouhuys 1981, 1982a).…”
Section: Introductionmentioning
confidence: 99%
“…It is reported that congenital retinal fold is not a single clinical entity, but can be a manifestation of a diverse group of conditions (van Nouhuys 1982a). Familial exudative vitreoretinopathy (FEVR; MIM 133780) and microcephaly are frequently associated with congenital retinal fold (van Nouhuys 1981, 1982a). In OMIM two separate entries (MIM, 152950 and 156590) describe several reports in which the patients suffer from microcephaly, mild to moderate mental retardation, chorioretinopathy or congenital retinal fold, and lymphedema.…”
Section: Introductionmentioning
confidence: 99%
“…1 The disease is characterised by bilateral deficient retinal vessel development, particularly in the temporal retinal periphery. [1][2][3][4] This aspect of the phenotype is reported to be universal in affected individuals when examined by fundus fluorescein angiography, 5 although it often causes no symptoms. 3 5 6 The FEVR phenotype, however, is highly variable because many individuals develop a myriad of retinal abnormalities triggered by ischaemia in the avascular retina.…”
mentioning
confidence: 99%