title: Macular dystrophy in Kabuki syndrome: a new clinical feature?
abstract: Kabuki syndrome is a rare and genetically heterogenous condition that has both systemic and ophthalmic complications. Macular dystrophy has not previously been noted in conjunction with this syndrome. The authors present a 14-year-old girl with Kabuki syndrome with macular dystrophy and confirmatory electrodiagnostics.
authors.affiliation: Ophthalmology Department, Frimley Park Hospital, Portsmouth Road, Surrey, GU16 7UJ, United Kingdom. danlindfield@hotmail.com
authors.forename: Dan
authors.initials: D
authors.lastname: Lindfield
authors.forename: Michael F P
authors.initials: MF
authors.lastname: Griffiths
authors.forename: Dorothy A
authors.initials: DA
authors.lastname: Thompson
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005145:Face / Q000002:abnormalities*; D005260:Female; D005451:Fluorescein Angiography; D005583:Fourier Analysis; D006402:Hematologic Diseases / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis* / Q000209:etiology; D012160:Retina / Q000503:physiopathology*; D041623:Tomography, Optical Coherence; D015837:Vestibular Diseases / Q000150:complications / Q000175:diagnosis*