Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations
JM Robitaille, RM Gillett, MA LeBlanc… - JAMA …, 2014 - jamanetwork.com
Importance Retinal detachment with avascularity of the peripheral retina, typically
associated with familial exudative vitreoretinopathy (FEVR), can result from mutations
inKIF11, 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 presentations for mutations
inKIF11because the phenotypic distinction between FEVR and MLCRD/CDMMR portends …
associated with familial exudative vitreoretinopathy (FEVR), can result from mutations
inKIF11, 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 presentations for mutations
inKIF11because the phenotypic distinction between FEVR and MLCRD/CDMMR portends …