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.

Agreement and differences between macular values in children using two types of spectral optical coherence tomography.

OBJECTIVES: To determine the degree of agreement and differences between macular parameters according to sex, age, laterality, ethnicity and type of optical coherence tomography (OCT) in paediatric patients. MATERIALS AND METHODS: Prospective, transversal, and comparative study. OCT Spectralis and OCT Cirrus were used to obtain the macular values of both eyes in 100 patients between 5 and 15 years without ocular pathology. Due to the similarity between the values of both eyes, in the final sample we only considered the right eyes (OD) (n = 100). RESULTS: The average central macular thickness (CMT) was 244.2 µm with Cirrus and 261.7 µm with Spectralis. The degree of agreement for the GMC was moderate (Intraclass Correlation Coefficient: 0.66) and from low to very low in the other quadrants. The GMC values of both systems were significantly higher in men than in women (P < .05). The macular retinal nerve fibre layer (mRNC), ganglion cell layer (GCC), the inner plexiform layer (IPLC), and the inner nuclear layer (INFL) had significantly higher values in men than in women (P < .01). There were no statistically significant differences in the GMC by age and laterality, however it was significantly higher in ethnic European children than in ethnic Latin American children; Cirrus (P = .042) and Spectralis (P = .033). CONCLUSIONS: Macular parameters obtained by OCT Spectralis and OCT Cirrus should not be interchangeable in pediatric patients.

Grado de concordancia y diferencias entre valores maculares en niños mediante dos tipos de tomografía de coherencia óptica espectral / Agreement and differences between macular values in children using two types of spectral optical coherence tomography

Objetivo Determinar el grado de concordancia y las diferencias entre los parámetros maculares en función de sexo, edad, lateralidad, etnia y tipo de tomografía de coherencia óptica (OCT) en pacientes pediátricos. Materiales y métodos Estudio prospectivo, transversal y comparativo. Se hizo uso de la OCT Spectralis y la OCT Cirrus para obtener los valores maculares de ambos ojos en 100 pacientes entre 5 y 15años sin patología ocular. Debido a la semejanza entre los valores de ambos ojos, en la muestra final solo consideramos los ojos derechos (OD) (n=100). Resultados La media del grosor macular central (GMC) fue de 244,2μm con Cirrus y 261,7μm con Spectralis. El grado de concordancia para el GMC fue moderado (coeficiente de correlación intraclase: 0,66) y de bajo a muy bajo en el resto de cuadrantes. Los valores de GMC de ambos sistemas fueron significativamente mayores en varones que en mujeres (p<0,05). La capa de fibras nerviosas de la retina macular (CFNRm), la capa de células ganglionares (CCG), la capa plexiforme interna (CPI) y la capa nuclear interna (CNI) tuvieron valores significativamente mayores en varones que en mujeres (p<0,01). No hubo diferencias estadísticamente significativas en el GMC según edad y lateralidad; sin embargo, fue significativamente mayor en niños de etnia europea que en niños de etnia latinoamericana; Cirrus (p=0,042) y Spectralis (p=0,033). Conclusiones Los parámetros maculares obtenidos mediante OCT Spectralis y OCT Cirrus no deberían ser intercambiables en pacientes pediátricos (AU)

Objective To determine the degree of agreement and differences between macular parameters according to sex, age, laterality, ethnicity and type of optical coherence tomography (OCT) in paediatric patients. Materials and methods Prospective, transversal, and comparative study. OCT Spectralis and OCT Cirrus were used to obtain the macular values of both eyes in 100 patients between 5 and 15years without ocular pathology. Due to the similarity between the values of both eyes, in the final sample we only considered the right eyes (OD) (n=100). Results The average central macular thickness (CMT) was 244.2μm with Cirrus and 261.7μm with Spectralis. The degree of agreement for the GMC was moderate (intraclass correlation coefficient: 0.66) and from low to very low in the other quadrants. The GMC values of both systems were significantly higher in men than in women (P<.05). The macular retinal nerve fibre layer (mRNC), ganglion cell layer (GCC), the inner plexiform layer (IPLC), and the inner nuclear layer (INFL) had significantly higher values in men than in women (P<.01). There were no statistically significant differences in the GMC by age and laterality, however it was significantly higher in ethnic European children than in ethnic Latin American children; Cirrus (P=.042) and Spectralis (P=.033). Conclusions Macular parameters obtained by OCT Spectralis and OCT Cirrus should not be interchangeable in pediatric patients (AU)

Grado de concordancia y diferencias entre los valores de capa de fibras nerviosas de la retina peripapilar en niños mediante dos tipos de tomografía de coherencia óptica espectral / Agreement in retinal nerve fiber layer values and comparison in children using two optical coherence tomography devices

OBJETIVO: Determinar el grado de concordancia y las diferencias entre los valores medios de las capas de fibras nerviosas de la retina (CFNRm) peripapilar en función del sexo, la edad, la lateralidad, la etnia y el tipo de tomografía de coherencia óptica (OCT) en pacientes pediátricos. MATERIAL Y MÉTODOS: Estudio prospectivo, transversal y comparativo. Se utilizó tanto la OCT Spectralis como la OCT Cirrus para medir los valores del disco óptico de ambos ojos en 100 pacientes de entre 5 y 15 años sin patología ocular. Debido al alto grado de semejanza en los valores de ambos ojos al llevar a cabo el análisis estadístico, y para evitar sesgos, en la muestra final solo consideramos los ojos derechos (n = 100). RESULTADOS: Los valores de CFNRm fueron de 99,6μm con Cirrus y de 106,7 μm con Spectralis. Las mediciones de CFNRm mostraron correlación negativa con los valores de la longitud axial (p < 0,01) para ambas OCT. Mediante el coeficiente de correlación intraclase (CCI), el grado de concordancia entre los valores de CFNRm y entre los valores de CFNR inferior fue moderado (CCI: 0,67 y 0,61, respectivamente), y bajo en el resto de los sectores. Los valores de CFNRm para ambas OCT fueron mayores en mujeres que en varones (p > 0,05), y tampoco se obtuvo significación estadística según la edad o la lateralidad (p > 0,05). El valor de CFNRm fue significativamente más alto en pacientes de etnia latinoamericana que en pacientes de etnia europea. CONCLUSIONES: Los valores de CFNR peripapilar obtenidos mediante OCT Spectralis y OCT Cirrus no deberían ser usados indistintamente en pacientes pediátricos

OBJECTIVE: To assess absolute agreement and differences in peripapillary retinal nerve fiber layer (pRNFL) values according to sex, age, laterality, origin and optical coherence tomography (OCT) type in normal pediatric patients undergoing OCT scans using both Cirrus and Spectralis. MATERIAL AND METHODS: Prospective, cross-sectional, and comparative study. We used Spectralis OCT and Cirrus OCT to measure optic disc values of both eyes in one hundred pediatric patients (age 5 to 15 years), with no previous ocular pathology or systemic disease that could affect the eye. Due to the similarity between eyes, only right eyes were considered (n = 100). RESULTS: The average peripapillary retinal nerve fiber layer (pRNFL) values were 99.6 μm with Cirrus and 106.7 μm with the Spectralis system. The four quadrants followed the ISNT rule (inferior-superior-nasal-temporal). The average pRNFL measures correlated negatively with the AL (P < .01) in both OCTs, and the degree of agreement between OCTs for pRNFL and inferior RNFL was moderate (CCI: 0.67 and 0.61, respectively), and low in the rest of the sectors. The average pRNFL values of both OCTs were higher in women than in men (P > .05) and there were also no statistical differences in the pRNFL according to age or laterality (P > .05). All RNFL values were significantly different between both types of OCTs (P < .05) and average pRNFL values were significantly thicker (P < .05) in Latin American than in European children in both eyes

Agreement in retinal nerve fiber layer values and comparison in children using two optical coherence tomography devices. / Grado de concordancia y diferencias entre los valores de capa de fibras nerviosas de la retina peripapilar en niños mediante dos tipos de tomografía de coherencia óptica espectral.

OBJECTIVE: To assess absolute agreement and differences in peripapillary retinal nerve fiber layer (pRNFL) values according to sex, age, laterality, origin and optical coherence tomography (OCT) type in normal pediatric patients undergoing OCT scans using both Cirrus and Spectralis. MATERIAL AND METHODS: Prospective, cross-sectional, and comparative study. We used Spectralis OCT and Cirrus OCT to measure optic disc values of both eyes in one hundred pediatric patients (age 5 to 15years), with no previous ocular pathology or systemic disease that could affect the eye. Due to the similarity between eyes, only right eyes were considered (n=100). RESULTS: The average peripapillary retinal nerve fiber layer (pRNFL) values were 99.6µm with Cirrus and 106.7µm with the Spectralis system. The four quadrants followed the ISNT rule (inferior-superior-nasal-temporal). The average pRNFL measures correlated negatively with the AL (P<.01) in both OCTs, and the degree of agreement between OCTs for pRNFL and inferior RNFL was moderate (CCI: 0.67 and 0.61, respectively), and low in the rest of the sectors. The average pRNFL values of both OCTs were higher in women than in men (P>.05) and there were also no statistical differences in the pRNFL according to age or laterality (P>.05). All RNFL values were significantly different between both types of OCTs (P<.05) and average pRNFL values were significantly thicker (P<.05) in Latin American than in European children in both eyes. CONCLUSIONS: We suggest that the respective peripapillary RNFL values obtained using these two OCTs should not be considered interchangeable in pediatric patients.

Maculopatía pseudoviteliforme asociada a pliegues coroideos bilaterales. Diagnóstico diferencial / Pseudo-vitelliform maculopathy and bilateral choroidal folds: differential diagnosis

Mujer de 64 años, agudeza visual en ojo derecho (OD) 0,5 y 0,7 en ojo izquierdo (OI). Pseudofaquia bilateral. No signos inflamatorios. PIO normal. Funduscópicamente en la retinografía el OD evidencia un depósito subfoveal amarillento, redondeado, sobreelevado y autofluorescente. Abundantes drusas ecuatoriales y pliegues coroideos bilaterales. En angiofluoresceinografía, el OD muestra hipofluorescencia foveal inicial con hipercaptación tardía. La tomografía de coherencia óptica muestra un depósito hiperrefringente sobre epitelio pigmentario foveal. Campos visuales, ecografías oculares y electrooculogramas: normales. Alteración inespecífica del test de colores. Conclusión: Las distrofias maculares viteliformes y los pliegues coroideos son entidades poco frecuentes y su asociación es excepcional(AU)

A 64 year old woman. Best corrected acuity right eye (RE) 0.5 and 0.7 left eye (LE). Bilateral pseudophakia. No inflammatory signs. Normal IOP. RE fundus showed a rounded, yellow and excessive subfoveal deposit with positive autofluorescence. Multiple equatorial drusen and choroidal folds in both eyes. Fluorescein angiography of RE showed early foveal hypofluorescence and delayed hyperluorescence. Optical coherence tomography revealed a hiperreflective deposit over the foveal epithelium pigment. Visual fields, ocular ultrasounds and electrooculograms were normal. Non-specific alterations in colour tests. Conclusión: Vitelliform maculopathy and choroidal folds are very rare diseases and, exceptionally, appear together(AU)

[Pseudo-vitelliform maculopathy and bilateral choroidal folds: differential diagnosis]. / Maculopatía pseudoviteliforme asociada a pliegues coroideos bilaterales. Diagnóstico diferencial.

CLINICAL CASE: A 64 year old woman. Best corrected acuity right eye (RE) 0.5 and 0.7 left eye (LE). Bilateral pseudophakia. No inflammatory signs. Normal IOP. RE fundus showed a rounded, yellow and excessive subfoveal deposit with positive autofluorescence. Multiple equatorial drusen and choroidal folds in both eyes. Fluorescein angiography of RE showed early foveal hypofluorescence and delayed hyperluorescence. Optical coherence tomography revealed a hiperreflective deposit over the foveal epithelium pigment. Visual fields, ocular ultrasounds and electrooculograms were normal. Non-specific alterations in colour tests. CONCLUSION: Vitelliform maculopathy and choroidal folds are very rare diseases and, exceptionally, appear together.