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Updated: Jun 30, 2026
Multifocal Electroretinograms
Published on: December 4, 2011
KIF11-related MCLMR presenting with FEVR-like retinopathy: first report in an Indian child
Abhishek Das1, Ponny J Kumar2, Parag K Shah1
1Department of Pediatric Retina & Ocular Oncology, Aravind Eye Hospital & Postgraduate Institute of Ophthalmology, Coimbatore, India.
Introduction:
KIF11 gene mutations can result in a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR/MLCRD). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR).
Methods:
Retrospective case report.
Results:
A 2-month-old female child came to our clinic for fundus evaluation. On examination, there was microcephaly with dysmorphism of broad and bulbous nose and bilateral pitting edema. Fundus examination revealed bilateral symmetrical chorio-retinal atrophic spots with dysplasia and temporal peripheral avascular retina. Fluorescein angiography revealed peripheral avascular retina without any neovascularisation elsewhere. Whole genome sequencing along with mitochondrial genome sequencing revealed a heterozygous, likely pathogenic, mutation in KIF11 c.2830C > T (pArg944Cys) (Transcript: NM_004523.4) in exon 20 with an inheritance of autosomal dominant confirming the diagnosis of KIF11-related Retinopathy.
Conclusion:
Genetic counseling and family screening are paramount for managing this multisystem disorder and advising on recurrence risk. Genetic testing confirmed the KIF11 mutation, providing insights into the management and prognosis.
Insights
Mutations in the KIF11 gene cause microcephaly with chorioretinopathy (MCLMR) and familial exudative vitreoretinopathy (FEVR). Genetic testing confirmed a KIF11 mutation in a patient with these conditions.
Area of Science:
- Genetics
- Ophthalmology
- Medical Genetics
Background:
- KIF11 gene mutations are linked to microcephaly with chorioretinopathy, lymphedema, or mental retardation (MCLMR/MLCRD).
- These mutations have also been recently associated with familial exudative vitreoretinopathy (FEVR).
Purpose of the Study:
- To report a case of KIF11-related retinopathy.
- To highlight the genetic basis and clinical presentation of this rare disorder.
Main Methods:
- Retrospective case report of a 2-month-old female infant.
- Fundus examination and fluorescein angiography.
- Whole genome and mitochondrial genome sequencing to identify KIF11 gene mutations.
Main Results:
- The patient presented with microcephaly, dysmorphic features, and bilateral chorio-retinal atrophic spots.
- Fundus examination revealed peripheral avascular retina without neovascularization.
- Genetic sequencing identified a heterozygous, likely pathogenic KIF11 mutation (c.2830C>T, pArg944Cys) with autosomal dominant inheritance.
Conclusions:
- Genetic testing confirmed KIF11-related retinopathy.
- Genetic counseling and family screening are crucial for managing this multisystem disorder and assessing recurrence risk.
