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
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
Asunto(s)
Humanos , Masculino , Femenino , Reflejo/fisiología , Estornudo , Estornudo/genética , Síndrome , Atrofia Óptica Autosómica Dominante/complicaciones , Atrofia Óptica Autosómica Dominante/diagnóstico , Atrofia Óptica Autosómica Dominante/patología , Luz Solar/efectos adversos , Fotomicrografía , Tomografía de Coherencia Óptica/métodos , Atrofia Óptica Autosómica Dominante/genética , Queratitis/complicaciones , Queratitis/genética , Hipersensibilidad/complicacionesRESUMEN
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.
Asunto(s)
Reflejo Anormal/efectos de la radiación , Estornudo/genética , Adolescente , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Niño , Femenino , Genes Dominantes , Humanos , Masculino , Persona de Mediana Edad , Nervio Oftálmico/ultraestructura , Linaje , Estimulación Luminosa , Reflejo/genética , España , Luz Solar , Síndrome , Adulto JovenRESUMEN
We report a case of acquired night blindness in a developed country (Spain) without risk factors for nutritional deficiency disease or family history of hereditary retinal disease. A 76-year-old woman presented with acquired night blindness of 6-month progression. After a thorough inquiry about eating patterns she becomes suspicious of vitamin A low dietary intake, which is analytically confirmed and successfully treated. Despite being very uncommon in our environment and even more in patients without digestive problems, in a patient reporting acquired night blindness vitamin A deficiency should not be discarded until eating patterns have been investigated. It might be especially relevant in certain socioeconomic situations and eating disorders such as bulimia or anorexia nervosa.
