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.

Keywords: Dominant autosomal inheritance; Estornudo; Herencia autosómica dominante; Luz solar; Nervios corneales prominentes; Ocular; Photic reflex; Prominent corneal nerves; Reflejo fótico; Sneeze; Sunlight.