{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:45Z","timestamp":1747146105036,"version":"3.40.5"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T00:00:00Z","timestamp":1675382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Persistent fetal vasculature (PFV) is a rare malformative ocular disorder resulting from the failure of the hyaloid vasculature to regress. The severity of the visual impairment is depending on the underlying eye defects, ranging from discreet hyaloid remnants to severe ocular anomalies. Although PFV is generally unilateral, sporadic and idiopathic, a genetic cause has been described in some individuals, especially those presenting with a bilateral and\/or syndromic form of PFV. The genes occasionally described in PFV are most often responsible for a wide spectrum of ocular phenotypes such as <jats:italic>ATOH7<\/jats:italic> or <jats:italic>NDP<\/jats:italic>, a gene also known to be involved in Norrie disease, a X\u2010linked vitreoretinopathy with extra\u2010ocular features. We describe here a patient with an ocular phenotype consisting in non\u2010syndromic bilateral PFV with cataract and microphthalmia, in whom a recurrent heterozygous de novo <jats:italic>MIP<\/jats:italic> disease\u2010causing variant was detected after using a dedicated 119\u2010ocular genes panel approach. Defects in the <jats:italic>MIP<\/jats:italic> gene are classically associated with dominant non\u2010syndromic congenital cataract without other ocular malformative features. Thus, this case highlights the value of exploring individuals with PFV, even those with non\u2010syndromic forms. It also broadens the phenotypic spectrum of the <jats:italic>MIP<\/jats:italic> gene, adding new insights into the gene networks underlying PFV pathophysiology, that remains unclear.<\/jats:p>","DOI":"10.1002\/ajmg.a.63133","type":"journal-article","created":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T11:53:57Z","timestamp":1675425237000},"page":"1373-1377","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["First implication of <scp><i>MIP<\/i><\/scp> in bilateral microphthalmia with persistent fetal vasculature"],"prefix":"10.1002","volume":"191","author":[{"given":"M\u00e9lissa","family":"Santorini","sequence":"first","affiliation":[{"name":"Ophthalmology Department Rothschild Foundation Hospital  Paris France"},{"name":"Ophthalmology Department Robert Debr\u00e9 University Hospital  Reims 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