Article
KIF11-related MCLMR presenting with FEVR-like retinopathy: first report in an Indian child.
Ophthalmic genetics - 1 Feb 2026
Das Abhishek, Kumar Ponny J, Shah Parag K, Venkatapathy Narendran
Abstract excerpt
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...
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