Curiosidadreflejo de estornudo fótico. Síndrome helio-oftálmico de estornudos compulsivos autosómico dominante
- C. Sevillano 1
- A. Parafita-Fernández 1
- V. Rodriguez-Lopez 1
- M. Sampil 1
- N. Moraña 1
- E. Viso 1
- F.J. Cores 1
- 1 Complejo Hospitalario de Pontevedra, Pontevedra, Spain
ISSN: 0365-6691
Year of publication: 2016
Volume: 91
Issue: 7
Pages: 305-309
Type: Article
More publications in: Archivos de la Sociedad Española de Oftalmologia
Abstract
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