title: Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma.
abstract: OBJECTIVE
  To report the association of Duane syndrome with nystagmus and a patterned hyperpigmentation of the retinal pigment epithelium, developmental delay, micro- and pachygyria and craniopharyngioma.
  
  
  METHODS
  We describe a 12-year old girl with developmental delay, hearing loss, cortical micro- and pachygyria, and a cystic craniopharyngioma; her ocular features include unilateral Duane syndrome, monocular nystagmus under binocular conditions, and a patterned hyperpigmentation of the retinal pigment epithelium. Her mother had similar retinal pigment epithelial abnormalities.
  
  
  CONCLUSIONS
  The combination of two neuronal migrational disorders, the unusual retinal pigment epithelial abnormalities in the proband and her mother, and evidence that each feature may be genetic and are suggestive of a genetic basis for this constellation of features.
authors.affiliation: Department of Pediatric Ophthalmology, Ophthalmic Hospital C. Sperino, Turin, Italy.
authors.forename: Savino
authors.initials: S
authors.lastname: D'Amelio
authors.forename: Natalie
authors.initials: N
authors.lastname: Lassen
authors.forename: Vasilis
authors.initials: V
authors.lastname: Vasiliou
authors.forename: J Bronwyn
authors.initials: JB
authors.lastname: Bateman
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D003397:Craniopharyngioma / Q000235:genetics / Q000473:pathology*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology*; D004370:Duane Retraction Syndrome / Q000235:genetics / Q000473:pathology; D019773:Epiretinal Membrane / Q000235:genetics / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000473:pathology*; D006801:Humans; D054082:Lissencephaly / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009759:Nystagmus, Pathologic / Q000235:genetics / Q000473:pathology; D010911:Pituitary Neoplasms / Q000235:genetics / Q000473:pathology*; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology; D055213:Retinal Pigment Epithelium / Q000473:pathology