C Sevillano1, A Parafita-Fernández2, V Rodriguez-Lopez3, M Sampil1, N Moraña1, E Viso1, F J Cores1. 1. Servicio de Oftalmología, Complejo Hospitalario de Pontevedra, Pontevedra, Spain. 2. Servicio de Oftalmología, Complejo Hospitalario de Pontevedra, Pontevedra, Spain. Electronic address: alberto.parafita.fernandez@sergas.es. 3. Medicina Familiar y Comunitaria, Complejo Hospitalario de Pontevedra, Pontevedra, Spain.
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.
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.