title: [Ocular manifestations in Proteus syndrome].
abstract: METHODS
  Congenital disfiguring malformations are rare and usually have a multifactorial aetiology. Here we report on the ocular manifestations seen in a patient with Proteus syndrome. The retina showed retinal dysgenesia, retinal pigmentary abnormalities and optic nerve hypoplasia. Other abnormalities included strabismus and high myopia.
  
  
  CONCLUSIONS
  Proteus syndrome is a complex hamartomatous disorder defined by local overgrowth, subcutaneous tumours and various bone, cutaneous and/or vascular anomalies. The incidence of ocular malformations in Proteus syndrome is unknown, however a meticulous cranio-facial examination and a systematic study of the eye is required to improve the medical care of these patients.
authors.affiliation: Servicio de Oftalmología de Hospital de Cruces, Vizcaya, España. mariasanlo@terra.es
authors.forename: M
authors.initials: M
authors.lastname: Sánchez-López
authors.forename: R
authors.initials: R
authors.lastname: Martínez-Fernández
authors.forename: A
authors.initials: A
authors.lastname: Santamaría-Carro
mesh_terms: D003937:Diagnosis, Differential; D004569:Electroencephalography; D005124:Eye Abnormalities / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009900:Optic Nerve / Q000002:abnormalities*; D016715:Proteus Syndrome / Q000175:diagnosis* / Q000401:mortality; D012160:Retina / Q000002:abnormalities*; D012168:Retinal Pigments
chemical_list: D012168:Retinal Pigments