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Start Over Author "Sampil M" Journal archivos de la sociedad espanola de oftalmologia
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2. A curious fact: Photic sneeze reflex. Autosomical dominant compelling helio-ophthalmic outburst syndrome.

Author

Sevillano C, Parafita-Fernández A, Rodriguez-Lopez V, Sampil M, Moraña N, Viso E, and Cores FJ

Subjects
Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, Female, Genes, Dominant, Humans, Male, Middle Aged, Ophthalmic Nerve ultrastructure, Pedigree, Photic Stimulation, Reflex genetics, Spain, Sunlight, Syndrome, Young Adult, Reflex, Abnormal radiation effects, Sneezing genetics
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., (Copyright © 2016 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.)

Published
2016
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