Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

doi:10.1001/jamaophthalmol.2014.2814

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Article

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

JAMA ophthalmology - 1 Dec 2014

Robitaille Johane M, Gillett Roxanne M, LeBlanc Marissa A, Gaston Daniel, Nightingale Mathew, Mackley Michael P, Parkash Sandhya, Hathaway Julie, Thomas Aidan, Ells Anna, Traboulsi Elias I, Héon Elise, Roy Mélanie, Shalev Stavit, Fernandez Conrad V, MacGillivray Christine, Wallace Karin, Fahiminiya Somayyeh, Majewski Jacek, McMaster Christopher R, Bedard Karen

Abstract excerpt

IMPORTANCE: Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR). Ophthalmologists should be aware of the range of...

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PMID: 25124931
DOI: 10.1001/jamaophthalmol.2014.2814

Genes

KIF11

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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.PMID 25124931Read ↗

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