Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant

Khalid A. Alanazi; Saad Mutlaq Alosaimi; Asma Alzuabi

doi:10.12659/AJCR.952957

06 August 2026 : Case report Saudi Arabia

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant

Rare disease

Khalid A. Alanazi^{ABEF 1}, Saad Mutlaq Alosaimi^{ABEF 2}, Asma Alzuabi^{AEF 2*}

DOI: 10.12659/AJCR.952957

Am J Case Rep 2026; 27:e952957

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Figure 1 Color fundus photograph of both eyes. Both images (A, B) show clear media, total optic disc pallor, diffuse retinal atrophic changes involving the macula, peripheral and mid-peripheral islands of chorioretinal atrophy, peripheral lattice degeneration, and bone spicules, more prominent in photo A than B.

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Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant

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