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Jiao Lyu, Peiquan Zhao; Genotypes-phenotype correlation in familial exudative vitreoretinopathy probands with KIF-11 mutation. Invest. Ophthalmol. Vis. Sci. 2016;57(12):651.
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© ARVO (1962-2015); The Authors (2016-present)
KIF-11 gene mutation has been newly reported to be a cause of familial exudative vitreoretinopathy (FEVR) while the genotype-phenotype correlation is still under investigation. We performed a retrospective study of the FEVR probands with KIF-11 gene mutation to learn about the genotype-phenotype correlation.
Clinical and genetic data of 78 patients diagnosed with FEVR during 2013 to 2015 were reviewed. All the patients had undergone genetic analysis of FZD4, LRP5, TSPAN12, ZNF408, and KIF-11 gene by Sanger sequencing. The patients with KIF-11 gene mutation were studied and followed up for longer than 6 months.
KIF-11 gene mutation was discovered in 16 of the 78 probands with FEVR, including heterozygous point mutation (n= 13 probands) in c.2153A>T (p.H718L)(n=10), c.1924C>G (p.P642A)(n=1),c.2807C>G (p.S936X)(n=2),heterozygous splicing mutation in c.790-2A>C(n=1), heterozygous deletion in c.2949d elG (n=1), and heterozygous whole gene deletion (n=1). Of the 16 patients, there were 10 males and 6 females, aging from 8 months to 8 years old. The follow-up time ranged from 6 months to 24 months.All the patients had typical bilateral vitreoretinopathies diagnostic of FEVR and symmetrical staging of the disease was observed in 7 at first visit. Except for 1 patient with c.2153A>T mutation having mild peripheral retinal avascularity, the remaining 12 with point mutation had falciform retinal folds(n=5) and total retinal detachment(n=7) and 7 of them were undergoing disease progression.(Fig 1, 2) Two patients with gene deletion had progressive bilateral tractional retinal detachment and 1 of them developed elevated intraocular pressure due to pupil occlusion. One patient with gene splicing had bilateral falciform folds with repeately hemorrhage in one eye. Treatment was performed in 6 patients involving anti-glaucoma theraphy, retinal photocoagulation,anti-VEGF therapy,and staged vitrectomy, although 4 patients were still undergoing exacerbation.
FEVR probands affecting KIF-11 gene mutation are predisposed to progressive and severe ocular phenotypes and the heterozygous point mutation in KIF-11 gene is the predominant genotype.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
Figure 1. Fluroscein angiogram of a boy infant with FEVR. Dilated vessel endings and extensive avascular zone with profuse leakage.
Figure 2. Falciform fold was formed 6 months after the first visit, even after timely laser treatment.
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