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Article

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

Ophthalmic genetics - 1 Apr 2025

Mishra Amit V, Martens Rosanna, Aizouki Carolin, Radziwon Alina, MacDonald Ian M

Abstract excerpt

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...

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Source

Identifiers

PMID: 39803728
DOI: 10.1080/13816810.2025.2450456

Genes

KIF11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Inferior sectoral chorioretinopathy in two patients with novel heterozygous KIF11 mutations.PMID 39803728Read ↗

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Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.Semantic proximity Read ↗

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.Semantic proximity Read ↗

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- The new lacunae: A case reportSemantic proximity Read ↗

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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.Semantic proximity Read ↗

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