Inferior sectoral chorioretinopathy in two patients with novel heterozygous KIF11 mutations.

Abstract

Background: Pathogenic variants in KIF11, a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.

Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel KIF11 mutations. Both patients have relatively good central vision similar inferior lacunae of retinal atrophy with relative sparing of the foveal center with.

Conclusion: Two cases with classic features of MCLMR have foveal sparing that expands the associated spectrum of ocular findings.