Ophthalmic Genet. 2025 Oct 9:1-4. doi: 10.1080/13816810.2025.2572708. Online ahead of print.
ABSTRACT
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.
PMID:41068583 | DOI:10.1080/13816810.2025.2572708