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Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KIF<\/jats:styled-content>11<\/jats:italic> have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed <jats:italic><jats:styled-content style=\"fixed-case\">KIF<\/jats:styled-content>11<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Standard ophthalmic examination and investigation including visual acuity, refraction and fundus examination was carried out in all patients. Fundus autofluorescence imaging (<jats:styled-content style=\"fixed-case\">FAF<\/jats:styled-content>) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (<jats:styled-content style=\"fixed-case\">OCT<\/jats:styled-content>). Flash electroretinography (<jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content>) was performed in seven patients, and five underwent additional pattern electroretinography (<jats:styled-content style=\"fixed-case\">PERG<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patients ranged in age from 2 to 10\u00a0years. Most presented with visual acuity loss. Fundus examination revealed lacunae of chorioretinal atrophy. Pigmentary macular changes and optic disc pallor were present in three of seven patients. Fundus autofluorescence demonstrated hypoautofluorescence at the macula in two of three patients. The lacunae of chorioretinal atrophy were hypoautofluorescent. The <jats:styled-content style=\"fixed-case\">OCT<\/jats:styled-content> showed atrophic maculae in three of four patients. Follow\u2010up in one patient showed no deterioration of the vision over a 9\u2010year period. The lesions appear not to be progressive on the follow\u2010up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Patients with <jats:italic><jats:styled-content style=\"fixed-case\">KIF<\/jats:styled-content>11<\/jats:italic> mutations show a specific ocular phenotype with variable expressivity and intrafamilial variability. Macular atrophy and dysfunction have not been consistently documented before. The fundus lesions appear non\u2010progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow\u2010up of patients with this syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.12759","type":"journal-article","created":{"date-parts":[[2015,5,21]],"date-time":"2015-05-21T17:25:39Z","timestamp":1432229139000},"page":"92-98","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (<scp>MCLID<\/scp>) syndrome associated with mutations in <i><scp>KIF<\/scp>11<\/i>"],"prefix":"10.1111","volume":"94","author":[{"given":"Irina","family":"Balikova","sequence":"first","affiliation":[{"name":"Moorfields Eye Hospital London UK"},{"name":"Free University of Brussels Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony G.","family":"Robson","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital London UK"},{"name":"UCL Institute of Ophthalmology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham E.","family":"Holder","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital London UK"},{"name":"UCL Institute of Ophthalmology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Ostergaard","sequence":"additional","affiliation":[{"name":"Cardiovascular &amp; 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