ABSTRACT
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
Subject(s)
Humans , Male , Female , Reflex/physiology , Sneezing , Sneezing/genetics , Syndrome , Optic Atrophy, Autosomal Dominant/complications , Optic Atrophy, Autosomal Dominant/diagnosis , Optic Atrophy, Autosomal Dominant/pathology , Sunlight/adverse effects , Photomicrography , Tomography, Optical Coherence/methods , Optic Atrophy, Autosomal Dominant/genetics , Keratitis/complications , Keratitis/genetics , Hypersensitivity/complicationsABSTRACT
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.
Subject(s)
Reflex, Abnormal/radiation effects , Sneezing/genetics , 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 AdultABSTRACT
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.
Subject(s)
Diet/adverse effects , Elder Nutritional Physiological Phenomena , Feeding Behavior , Night Blindness/etiology , Vitamin A Deficiency/etiology , Aged , Dietary Supplements , Disease Progression , Female , Humans , Night Blindness/physiopathology , Night Blindness/prevention & control , Nutrition Assessment , Spain , Treatment Outcome , Vitamin A/therapeutic use , Vitamin A Deficiency/diagnosis , Vitamin A Deficiency/diet therapy , Vitamin A Deficiency/physiopathologyABSTRACT
CASO CLÍNICO: Mujer de 74 años que acude por cuadro de visión borrosa en el ojo derecho, de 12 h de evolución, no acompañada de otra sintomatología. En la exploración biomicroscópica se observa un hipema de 3 mm en el ojo derecho y múltiples estructuras nodulares vasculares en el margen iridiano de ambos ojos. DISCUSIÓN: Los microhemangiomas vasculares iridianos son anomalías vasculares no relacionadas con la isquemia que deben ser incluidas en el diagnóstico diferencial de hipema espontáneo
CASE REPORT: A 74 year-old woman present with blurry vision of 12 hour duration in her right eye, and with no other symptoms. Biomicroscopic examination revealed a 3 mm hyphaema in her right eye and multiple nodular structures in the pupillary margin of both eyes. DISCUSSION: Iris tufts are vascular anomalies unrelated to ischaemia that must be included in the differential diagnosis of spontaneous hyphaema
Subject(s)
Humans , Female , Aged , Hemangioma/diagnosis , Iris Diseases/pathology , Hyphema/etiology , Ocular Hypertension/complications , Vasculitis, Central Nervous System/complicationsABSTRACT
CASE REPORT: A 74 year-old woman present with blurry vision of 12 hour duration in her right eye, and with no other symptoms. Biomicroscopic examination revealed a 3 mm hyphaema in her right eye and multiple nodular structures in the pupillary margin of both eyes. DISCUSSION: Iris tufts are vascular anomalies unrelated to ischaemia that must be included in the differential diagnosis of spontaneous hyphaema.
Subject(s)
Hamartoma/diagnosis , Hyphema/etiology , Iris Diseases/diagnosis , Administration, Topical , Aged , Brimonidine Tartrate , Cyclopentolate/therapeutic use , Dexamethasone/administration & dosage , Dexamethasone/therapeutic use , Diabetes Mellitus, Type 2/complications , Female , Glaucoma, Open-Angle/complications , Glaucoma, Open-Angle/drug therapy , Hamartoma/complications , Hamartoma/diagnostic imaging , Humans , Iris Diseases/complications , Iris Diseases/diagnostic imaging , Latanoprost , Microscopy, Acoustic , Ophthalmic Solutions , Prostaglandins F, Synthetic/therapeutic use , Quinoxalines/therapeutic use , Vision Disorders/etiologyABSTRACT
PURPOSE: To determine the prevalence of pinguecula and pterygium and to investigate their associations in a general adult population in North-Western Spain. METHODS: An age-stratified random sample of 1155 subjects ≥ 40 years was selected in O Salnés (Spain). From 937 eligible subjects, 619 (66.1%) participated (mean age (SD): 63.4 (14.5) years, range: 40-96 years, 37.0% males). An interview to collect history of systemic diseases and lifestyle details and a comprehensive ophthalmic evaluation in which pinguecula and pterygium were recorded was carried out. The prevalence of pinguecula and pterygium and their relationship with lifestyle factors and ocular and systemic diseases was investigated. RESULTS: The prevalence of pinguecula was 47.9% (95% confidence interval (CI): 43.9-51.9). This prevalence increased significantly with aging (P = 0.002) and was higher in men (56.4%; 95% CI: 50.0-62.7) than in women (42.7%; 95% CI: 37.8-47.8) (P=0.001). The prevalence of pterygium was 5.9% (95% CI: 4.3-7.9). This prevalence also increased significantly with aging (P = 0.005) and was 4.8% (95% CI: 2.6-8.4) in men and 6.5% (95% CI: 4.5-9.3) in women (P = 0.346). After controlling for age and sex, pinguecula was associated with alcohol intake (adjusted odds ratio (OR(a)): 3.08; 95% CI: 1.60-5.95), pterygium with fluorescein staining (OR(a): 2.64; 95% CI: 1.08-6.46) and both disorders with outer activity (OR(a): 2.07; 95% CI: 1.36-3.15 and 2.28; 95% CI: 1.04-4.98, respectively). CONCLUSIONS: Pinguecula is far more common than pterygium. Alcohol consumption is strongly associated with pinguecula. Fluorescein staining is highly prevalent in subjects with pterygium. Both disorders increase with age and are associated with outer activity.
Subject(s)
Conjunctival Diseases/epidemiology , Pterygium/epidemiology , Adult , Aged , Aged, 80 and over , Cross-Sectional Studies , Female , Humans , Life Style , Male , Middle Aged , Odds Ratio , Prevalence , Risk Factors , Spain/epidemiologyABSTRACT
CASE: A case of Descemet's membrane detachment after cataract surgery successfully treated with an injection of sulphur hexafluoride 20% is presented. DISCUSSION: Possible pathogenic mechanisms and available therapeutic options are discussed. We highlight the need for prophylactic measures and the importance of an early detection to prevent further damage.
Subject(s)
Cataract Extraction/adverse effects , Descemet Membrane , Aged , Female , HumansABSTRACT
Caso clínico: Se presenta un caso de desprendimiento de la membrana de Descemet tras cirugía de la catarata mediante facoemulsificación tratado con éxito utilizando SF6 al 20% intracameral. Discusión: Se exponen los posibles mecanismos etiopatogénicos y se comentan las distintas opciones terapéuticas. Enfatizamos la necesidad de adopción de medidas preventivas de este trastorno y de la importancia de su detección inmediata para evitar complicaciones adicionales
Case: A case of Descemet’s membrane detachment after cataract surgery successfully treated with an injection of sulphur hexafluoride 20% is presented. Discussion: Possible pathogenic mechanisms and available therapeutic options are discussed. We highlight the need for prophylactic measures and the importance of an early detection to prevent further damage (Arch Soc Esp Oftalmol 2008; 83: 549-552)