title: A curious fact: Photic sneeze reflex. Autosomical dominant compelling helio-ophthalmic outburst syndrome.
abstract: OBJECTIVE
  To assess ocular involvement in the pathophysiology of autosomal dominant compelling helio-ophthalmic outburst syndrome (ACHOOs).
  
  
  METHODS
  An interview was conducted with a Caucasian family that showed clinical features of ACHOOs. Twelve of them had photic reflex and were recruited. A complete eye evaluation was made.
  
  
  RESULTS
  A dominant autosomal inheritance with mild penetrance was demonstrated, with 67% of the studied subjects showing some degree of prominent corneal nerves. No other eye changes were found.
  
  
  CONCLUSIONS
  Prominent corneal nerves may be associated with ACHOOs. The other eye structures studied do not seem to play a role in ACHOOs. Further studies are needed to understand the physiology of the ACHOOs.
authors.affiliation: Servicio de Oftalmología, Complejo Hospitalario de Pontevedra, Pontevedra, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Sevillano
authors.affiliation: Servicio de Oftalmología, Complejo Hospitalario de Pontevedra, Pontevedra, Spain. Electronic address: alberto.parafita.fernandez@sergas.es.
authors.forename: A
authors.initials: A
authors.lastname: Parafita-Fernández
authors.affiliation: Medicina Familiar y Comunitaria, Complejo Hospitalario de Pontevedra, Pontevedra, Spain.
authors.forename: V
authors.initials: V
authors.lastname: Rodriguez-Lopez
authors.affiliation: Servicio de Oftalmología, Complejo Hospitalario de Pontevedra, Pontevedra, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Sampil
authors.affiliation: Servicio de Oftalmología, Complejo Hospitalario de Pontevedra, Pontevedra, Spain.
authors.forename: N
authors.initials: N
authors.lastname: Moraña
authors.affiliation: Servicio de Oftalmología, Complejo Hospitalario de Pontevedra, Pontevedra, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Viso
authors.affiliation: Servicio de Oftalmología, Complejo Hospitalario de Pontevedra, Pontevedra, Spain.
authors.forename: F J
authors.initials: FJ
authors.lastname: Cores
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009882:Ophthalmic Nerve / Q000648:ultrastructure; D010375:Pedigree; D010775:Photic Stimulation; D012018:Reflex / Q000235:genetics; D012021:Reflex, Abnormal / Q000528:radiation effects*; D012912:Sneezing / Q000235:genetics*; D013030:Spain; D013472:Sunlight; D013577:Syndrome; D055815:Young Adult
keywords: Dominant autosomal inheritance; Estornudo; Herencia autosómica dominante; Luz solar; Nervios corneales prominentes; Ocular; Photic reflex; Prominent corneal nerves; Reflejo fótico; Sneeze; Sunlight