In-Utero Diagnosis of Norrie Disease by Ultrasonography

Redmond, R M; Vaughan, Janet; Jay, Marcelle; Jay, Barrie

doi:10.3109/13816819309087615

Cited by 18 publications

(17 citation statements)

References 6 publications

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“…Congenital detachment of the retina is another finding of persistent primary vitreous reported in prenatally diagnosed cases 6,8–10,12,14. This condition is different from the retinal detachment that refers to conditions in which the retina is embryologically attached but later detached as a result of an acute retinal abnormality 9.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous

Esmer

Sivrikoz

Güleç

et al. 2016

J of Ultrasound Medicine

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Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous

Esmer

Sivrikoz

Güleç

et al. 2016

J of Ultrasound Medicine

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“…Prenatal ultrasound diagnosis of ND has been described previously only twice. In the first case, the authors detected bilateral retinal detachment at 34 weeks in a male fetus 4 . In the second case, prenatal ultrasound at 36 + 5 weeks showed that both eyes had massive vitreous cavity opacities with complete retinal detachment 5 .…”

Section: Prenatal Diagnosis Of Norrie Disease Based On Ultrasound Finmentioning

confidence: 96%

Prenatal diagnosis of Norrie disease based on ultrasound findings

Dubucs

Merveille²,

Kessler³

et al. 2019

Ultrasound in Obstet & Gyne

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Norrie disease (ND; OMIM: 310600) is a rare, X-linked, recessive genetic disease caused by mutations in the NDP gene and characterized by congenital blindness due to bilateral degenerative changes in neuroretina. About half of ND patients have intellectual disability. ND first manifests by ocular features during the third trimester of pregnancy after normal scan findings of the first two trimesters of pregnancy. This article is protected by copyright. All rights reserved.

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“…?-A candidate gene was isolated by positional cloning, within which mutations have been identified in affected, but not in normal, people.67 Despite this, chromosomal studies on a family with affected subjects and an X chromosome rearrangement suggested that the gene was located around Xp 1 4.8 The gene product has significant homologies to a number of extracellular proteins,9 and three dimensional modelling shows a similarity to transforming growth factor 1. 10 We describe a fetus found at prenatal diagnosis to have a de novo balanced X; 1 reciprocal translocation in whom, following termination of pregnancy at 19 weeks, the eyes were clearly abnormal and appeared to show pathological changes consistent with the early stages ofNorrie disease.…”

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confidence: 98%