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Article

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

Acta ophthalmologica - 1 Feb 2016

Balikova Irina, Robson Anthony G, Holder Graham E, Ostergaard Pia, Mansour Sahar, Moore Anthony T

Abstract excerpt

PURPOSE: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations. METHODS: Standard ophthalmic examination and investigation including visual acuity, refraction and fundus...

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Source

Identifiers

PMID: 25996076
DOI: 10.1111/aos.12759

Genes

KIF11
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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