| Summary: | Background: This study aimed to report the frequency of <i>KIF11</i>-mutations in a large familial exudative vitreoretinopathy (FEVR) population, extend the clinical spectrum of <i>KIF1</i>1-associated retinopathy and compare <i>KIF11</i>-associated retinopathy to FEVR with mutations in other genes. Methods: Genetic data collected from 696 FEVR families were reviewed. The ocular phenotypes in patients with <i>KIF11</i> mutations were analyzed and compared with those of FEVR patients with mutations in other genes (<i>FZD4</i>, <i>TSPAN12</i>, <i>LRP5</i>, <i>NDP</i> and <i>JAG1</i>). Results: In a cohort of 696 FEVR families, disease-causing <i>KIF11</i> mutations were identified in 3.6% of families (25/696). Among 25 <i>KIF11 mutations</i>, 80% (20/25) carried variants of loss of function and 48% (12/25) of variants were de novo. The phenotypes were variable. Compared with FEVR with disease-causing mutations in other genes, chorioretinal dysplasia was observed in 44.2% (31/70) of eyes with <i>KIF11</i>-associated retinopathy and in only 1.3% (1/70) of eyes with FEVR with mutations in other genes (<i>p</i> < 0.01). Increase and straightening of peripheral vessels (ISPV) was observed in 17.1% (12/70) of eyes with <i>KIF11</i>-associated retinopathy, and in 50% (39/78) of eyes with FEVR with mutations in other genes (<i>p</i> < 0.01). Conclusions: The frequency of the <i>KIF11</i> mutation in FEVR was 3.6% in our database. The manifestation of <i>KIF11</i>-associated retinopathy was variable and different from the phenotype in FEVR caused by other genes. Chorioretinal dysplasia, instead of retinal folds, was the dominant phenotype in <i>KIF11</i>-associated retinopathy. ISPV was rare in <i>KIF11</i>-associated retinopathy. Moreover, our study revealed that most pathogenic <i>KIF11</i> mutations were de novo.
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