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Inicio Archivos de la Sociedad Española de Oftalmología (English Edition) A curious fact: Photic sneeze reflex. Autosomical dominant compelling helio-opht...
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Vol. 91. Issue 7.
Pages 305-309 (July 2016)
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Vol. 91. Issue 7.
Pages 305-309 (July 2016)
Original article
A curious fact: Photic sneeze reflex. Autosomical dominant compelling helio-ophthalmic outburst syndrome
Curiosidad: reflejo de estornudo fótico. Síndrome helio-oftálmico de estornudos compulsivos autosómico dominante
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C. Sevillanoa, A. Parafita-Fernándeza,
Corresponding author
, V. Rodriguez-Lopezb, M. Sampila, N. Morañaa, E. Visoa, F.J. Coresa
a Servicio de Oftalmología, Complejo Hospitalario de Pontevedra, Pontevedra, Spain
b Medicina Familiar y Comunitaria, Complejo Hospitalario de Pontevedra, Pontevedra, Spain
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Figures (2)
Tables (3)
Table 1. Characteristics of the patients.
Table 2. Clinical characteristics of the sneezing.
Table 3. Eye examinations.
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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:
Photic reflex
Sneeze
Sunlight
Ocular
Dominant autosomal inheritance
Prominent corneal nerves
Resumen
Objetivo

Evaluar la implicación ocular en la fisiopatología del síndrome helio-oftálmico de estornudos compulsivos autosómico dominante (ACHOOs).

Métodos

Una familia de raza caucásica, que muestra las características clínicas de ACHOOs, fue interrogada. De toda la familia, 12 pacientes presentan reflejo fótico y fueron seleccionados. Se realiza una evaluación oftalmológica completa.

Resultados

Se encuentra una herencia autosómica dominante con penetrancia parcial. El 67% de los sujetos estudiados mostró algún grado de prominencia en los nervios corneales. No se encontraron otras alteraciones oculares.

Conclusiones

Los nervios corneales prominentes pueden tener asociación con el ACHOOs. Las otras estructuras del ojo estudiados no parecen desempeñar un papel en el ACHOOs. Se necesitan más estudios para comprender la fisiología del ACHOOs.

Palabras clave:
Reflejo fótico
Luz solar
Estornudo
Ocular
Herencia autosómica dominante
Nervios corneales prominentes

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