Aproximaciones a la epidemiología de la neuropatía óptica hereditaria de Leber en la comunidad autónoma de Madrid a través de una encuesta a los neuroftalmólogos / Approaches to the epidemiology of NOHL in the region of Madrid: Survey of neuro-ophthalmologists

Objective To estimate the epidemiology of Leber's optic neuropathy (NOHL) in the Region of Madrid. Material and methodsThe neuro-ophthalmologists who work at public hospitals of the CAM were interviewed by telephone. They were asked about the number of patients with NOHL that they had diagnosed during the time that they had been responsible for the neuro-ophthalmology department of that public hospital. The time worked and the population attended by the hospital were used to calculate the number of patient-years in follow-up by each center during the corresponding period. The basic information of each case (date of birth, mutation, and date of visual loss) was registered to avoid duplications. Results Our work estimates a global incidence of 2.34 cases for 10,000,000 inhabitants-year and a prevalence estimated from incidence of one case for each 106,682 inhabitants. This prevalence was very similar in all the studied areas and considerably lower than that reported by other studies. Conclusion This work constitutes the first approach to the epidemiology of this disease in Spain. The prevalence of NOHL in the region of Madrid is probably lower than that reported in the literature in other regions. The prevalence and the incidence were homogeneously low in the 26 studied areas. (AU)

Objetivo Estimar la epidemiología (incidencia y prevalencia) de la neuropatía óptica de Leber (NOHL) en la comunidad autónoma de Madrid (CM). Material y métodosLos neuroftalmólogos que trabajan en los hospitales públicos de la CAM fueron entrevistados telefónicamente. Se les preguntó por el número de pacientes con NOHL que habían diagnosticados durante el tiempo que han sido responsables de la consulta de neuroftalmología de ese hospital público. El tiempo trabajado y la población atendida por el hospital se utilizaron para calcular el número de habitantes-años en seguimiento por cada centro durante el periodo correspondiente y estimar la incidencia en cada área. La prevalencia estimada a partir de la incidencia (PEI) se calculó considerando que un paciente con NOHL vive unos 40 años con la enfermedad. Se registró la información básica de cada caso cuando estaba disponible (sexo, fecha de nacimiento, mutación, fecha de la pérdida visual) para evitar duplicaciones. Resultados Nuestro trabajo estima una incidencia global de 2,34 casos por cada 10.000.000 habitantes-año y una PEI de 1 caso por cada 106.682 habitantes. Esta prevalencia es inferior a la referida por otros estudios. Conclusión Este trabajo constituye la primera aproximación a la epidemiología de esta enfermedad en España. La prevalencia estimada de la NOHL en la CM es probablemente inferior a la reportada en la literatura en otras regiones. La prevalencia y la incidencia fueron homogéneamente bajas en las 26 áreas estudiadas. (AU)

Approaches to the epidemiology of NOHL in the region of Madrid: Survey of neuro-ophthalmologists.

OBJECTIVE: To estimate the epidemiology of Leber's optic neuropathy (NOHL) in the Region of Madrid. MATERIAL AND METHODS: The neuro-ophthalmologists who work at public hospitals of the CAM were interviewed by telephone. They were asked about the number of patients with NOHL that they had diagnosed during the time that they had been responsible for the neuro-ophthalmology department of that public hospital. The time worked and the population attended by the hospital were used to calculate the number of inhabitant-years in follow-up by each center during the corresponding period. The basic information of each case (date of birth, mutation, date of visual loss) was registered to avoid duplications. RESULTS: Our work estimates a global incidence of 2.34 cases for 10,000,000 inhabitants-year and a prevalence estimated from incidence of one case for each 106.682 inhabitants. This prevalence was very similar in all the studied areas and considerably lower than that reported by other studies. CONCLUSION: This work constitutes the first approach to the epidemiology of this disease in Spain. The prevalence of LHON in the region of Madrid, is probably lower than that reported in the literature in other regions. The prevalence and the incidence were homogeneously low in the 26 studied areas.

Retinal arterial and venous obstruction as the first manifestation of an antiphospholipid antibody syndrome.

CASE REPORT: A 34 year-old woman presented with decrease in visual acuity in her right eye (RE). Her past medical history was unremarkable. Dilated fundus examination revealed a central venous occlusion and an obstruction of the cilioretinal artery. Given the patient age, a cardiology and haematology screen was obtained to rule out hypercoagulation disorders and thromboembolic disease. Antiplatelet, anticoagulant, and corticosteroid therapy were started. The laboratory result was positive for anticardiolipin and antiphospholipid antibody. A diagnosis of antiphospholipid syndrome (APS) was made. DISCUSSION: Antiphospholipid syndrome may cause thrombosis in any organ. The involvement of the retinal vessels may be the first manifestation of this entity. This diagnosis is important to prevent recurrent thrombotic events.

Obstrucción arterial y venosa retiniana como primera manifestación de un síndrome de anticuerpos antifosfolípidos / Retinal arterial and venous obstruction as the first manifestation of an antiphospholipid antibody syndrome

Mujer de 34 años sin antecedentes de interés que acudió por disminución de visión del ojo derecho. El examen reveló una obstrucción de vena central de la retina y de la arteria ciliorretiniana. Dada la edad de la paciente se consultó con cardiología y hematología para descartar un estado de hipercoagulabilidad y patología tromboembólica. La analítica fue positiva para los anticuerpos anticardiolipina y antifosfolípidos. Se diagnosticó de un síndrome de anticuerpos antifosfolípidos. Se inició tratamiento antiagregante, anticoagulante y corticoideo. Discusión El síndrome antifosfolípido puede causar trombosis en cualquier órgano. La afectación de los vasos retinianos puede ser la primera manifestación. Su diagnóstico es importante para evitar fenómenos trombóticos recurrentes. (AU)

A 34 year-old woman presented with decrease in visual acuity in her right eye (RE). Her past medical history was unremarkable. Dilated fundus examination revealed a central venous occlusion and an obstruction of the cilioretinal artery. Given the patient age, a cardiology and haematology screen were obtained to rule out hypercoagulation disorders and thromboembolic disease. Antiplatelet, anticoagulant, and corticosteroid therapy were started. The laboratory result was positive for anticardiolipin and antiphospholipid antibody. A diagnosis of antiphospholipid syndrome (APS) was made. Discussion Antiphospholipid syndrome may cause thrombosis in any organ. The involvement of the retinal vessels may be the first manifestation of this entity. This diagnosis is important to prevent recurrent thrombotic events. (AU)

Queratitis microbiana: el impacto clínico de la secuenciación metagenómica de próxima generación (mNGS) / Microbial keratitis: the clinical impact of metagenomic next-generation sequencing (mNGS)

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Trece de diciembre de 1474. Epidemia de ceguera el día de la proclamación de Isabel la Católica: una licencia turística / December 13, 1474. Epidemic of blindness from the proclamation of Isabel la Católica: a tourist license

No disponible

Oftalmología, historia y humanidades / Ophthalmology, history and humanities

No disponible

Una herida ocular que supuso la muerte de un rey en la boda de Felipe II e Isabel de Valois / An eye wound that led to the death of a king in the wedding of Philip II and Elizabeth of Valois

No disponible