title: Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
abstract: OBJECTIVE
  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 examination was carried out in all patients. Fundus autofluorescence imaging (FAF) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (OCT). Flash electroretinography (ERG) was performed in seven patients, and five underwent additional pattern electroretinography (PERG).
  
  
  RESULTS
  The patients ranged in age from 2 to 10 years. 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 OCT showed atrophic maculae in three of four patients. Follow-up in one patient showed no deterioration of the vision over a 9-year period. The lesions appear not to be progressive on the follow-up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients.
  
  
  CONCLUSIONS
  Patients with KIF11 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-progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow-up of patients with this syndrome.
authors.affiliation: Moorfields Eye Hospital, London, UK.|Free University of Brussels, Brussels, Belgium.
authors.forename: Irina
authors.initials: I
authors.lastname: Balikova
authors.affiliation: Moorfields Eye Hospital, London, UK.|UCL Institute of Ophthalmology, London, UK.
authors.forename: Anthony G
authors.initials: AG
authors.lastname: Robson
authors.affiliation: Moorfields Eye Hospital, London, UK.|UCL Institute of Ophthalmology, London, UK.
authors.forename: Graham E
authors.initials: GE
authors.lastname: Holder
authors.affiliation: Cardiovascular & Cell Sciences Research Institute, St George's University of London, London, UK.
authors.forename: Pia
authors.initials: P
authors.lastname: Ostergaard
authors.affiliation: SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
authors.affiliation: Moorfields Eye Hospital, London, UK.|UCL Institute of Ophthalmology, London, UK.
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
mesh_terms: D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D019066:Facies; D005260:Female; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008209:Lymphedema / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D061848:Optical Imaging; D010641:Phenotype; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D015792:Retinal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: C470243:KIF11 protein, human; D016547:Kinesins
keywords: MCLID; MCLMR; chorioretinopathy; electroretinography; microcephaly; paediatric retina; retinal dystrophy