title: Characterization of optical coherence topography findings in Kenny-Caffey syndrome.
abstract: An unusual congenital syndrome was first reported in 1966 by Kenny and Linarelli, who described two patients with dwarfism, cortical thickening of the long bones, transient hypocalcemia, and normal intelligence,(1) the radiological features in the condition being reported by Caffey.(2) The constellation of dwarfism, medullary stenosis, transient hypocalcemia, and ophthalmologic abnormalities has been classically recognized as Kenny-Caffey syndrome with additional manifestations ranging from hypoplastic nails, persistent neutropenia, abnormal T-cell function, and neonatal liver disease.(3) Ocular findings range from uncomplicated nanophthalmos with hypermetropia to extreme pseudopapilloedema, vascular tortuosity, and macular crowding. Other reported ophthalmic findings include bilateral band keratopathy,(4) bilateral optic atrophy,(5) and myelinated nerve fibers.(6) We report two cases of Kenny-Caffey syndrome with an ellipsoid macular fold orientated horizontally involving the fovea and document this unusual feature with optical coherence topography (OCT).
authors.affiliation: Royal Victoria Eye and Ear Hospital, Dublin, Ireland. pjtim02@yahoo.co.uk <pjtim02@yahoo.co.uk>
authors.forename: Peter
authors.initials: P
authors.lastname: Timoney
authors.forename: Fiona
authors.initials: F
authors.lastname: Darcy
authors.forename: Kathryn
authors.initials: K
authors.lastname: McCreery
authors.forename: William
authors.initials: W
authors.lastname: Reardon
authors.forename: Donal
authors.initials: D
authors.lastname: Brosnahan
mesh_terms: D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002648:Child; D004392:Dwarfism / Q000175:diagnosis*; D006801:Humans; D006956:Hyperopia / Q000175:diagnosis; D006996:Hypocalcemia / Q000175:diagnosis*; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis; D010211:Papilledema / Q000175:diagnosis; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis*; D013577:Syndrome; D041623:Tomography, Optical Coherence