Inferior sectoral chorioretinopathy in two patients with novel heterozygous KIF11 mutations
Amit V Mishra1,2, Rosanna Martens1,2, Carolin Aizouki3
1Alberta Retina Consultants.
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.
Insights
Pathogenic KIF11 gene variants cause Microcephaly-Lymphedema-Chorioretinal Dysplasia-Lymphedema-Chorioretinal Dysplasia (MCLMR) and Familial Exudative Vitreoretinopathy (FEVR). This study highlights novel KIF11 mutations in two patients with MCLMR, expanding the ocular findings spectrum.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Pathogenic variants in the KIF11 gene, a kinesin family member, are associated with Microcephaly-Lymphedema-Chorioretinal Dysplasia (MCLMR) and Familial Exudative Vitreoretinopathy (FEVR).
- Chorioretinal atrophy is a common diagnostic feature in MCLMR cases.
Purpose of the Study:
- To report novel KIF11 mutations in two patients presenting with chorioretinal atrophy and microcephaly.
- To expand the understanding of the ocular findings spectrum in MCLMR.
Main Methods:
- Clinical case presentation of two patients with suspected MCLMR.
- Genetic analysis to identify mutations in the KIF11 gene.
Main Results:
- Identification of novel KIF11 mutations in both patients.
- Both patients exhibited chorioretinal atrophy with relative foveal sparing and good central vision, consistent with MCLMR.
Conclusions:
- The findings confirm KIF11 mutations as a cause of MCLMR.
- Foveal sparing in chorioretinal atrophy represents an expanded ocular finding in MCLMR, broadening the clinical spectrum.
