Neurorretinopatía autoinmune secundaria a infección por el virus del Zika / Autoimmune neuroretinopathy secondary to Zika virus infection

CASO CLÍNICO: Mujer de 40 años, infectada 6 meses antes de acudir a consulta por el virus del Zika. Dos semanas después comenzó con pérdida de agudeza visual (AV) progresiva e indolora que fue tratada con corticoides tópicos. Su AV mejoró, pero desde entonces refiere pérdida de campo visual (CV) y ceguera nocturna. En la exploración oftalmológica presenta graves secuelas compatibles con neurorretinopatía autoinmune. Dada la relación temporal con la infección por zika se diagnostica de neurorretinopatía autoinmune no paraneoplásica por zika. Se instaura terapia inmunosupresora con bolos de corticoides e infliximab. Discusión: El virus del Zika puede desencadenar una neurorretinopatía autoinmune no paraneoplásica. El diagnóstico es fundamentalmente clínico. Precisa tratamiento inmunosupresor, siendo de máxima importancia el diagnóstico precoz

CASE REPORT: A 40-year-old woman diagnosed with Zika virus infection 6 months before she arrived at this hospital. She referred to a progressive and painless vision loss, of 2 weeks onset after the infection diagnosis. She was treated with topical steroids. Previous visual acuity was recovered, but she still refers to reduced visual field and nyctalopia. Ophthalmologic examination revealed severe retinal sequels, compatible with autoimmune retinopathy. Based on the clinical features and the temporal relationship with Zika virus infection, non-para-neoplastic autoimmune retinopathy was diagnosed and managed with steroids and infliximab. DISCUSSION: Zika virus can trigger a non-para-neoplastic autoimmune retinopathy. The diagnosis is based on clinical features, and requires early immunosuppressive therapy

Autoimmune neuroretinopathy secondary to Zika virus infection. / Neurorretinopatía autoinmune secundaria a infección por el virus del Zika.

CASE REPORT: A 40-year-old woman diagnosed with Zika virus infection 6 months before she arrived at this hospital. She referred to a progressive and painless vision loss, of 2 weeks onset after the infection diagnosis. She was treated with topical steroids. Previous visual acuity was recovered, but she still refers to reduced visual field and nyctalopia. Ophthalmologic examination revealed severe retinal sequels, compatible with autoimmune retinopathy. Based on the clinical features and the temporal relationship with Zika virus infection, non-para-neoplastic autoimmune retinopathy was diagnosed and managed with steroids and infliximab. DISCUSSION: Zika virus can trigger a non-para-neoplastic autoimmune retinopathy. The diagnosis is based on clinical features, and requires early immunosuppressive therapy.

Síndrome de Sjögren-Larsson: tomografía de coherencia óptica y una nueva mutación / Sjögren-Larsson syndrome: Optical coherence tomography and a novel mutation

CASO CLÍNICO: Varón de 30 años con ictiosis, retraso intelectual, epilepsia y espasticidad. La exploración oftalmológica presenta agudeza visual corregida de 0,5 y maculopatía cristalina bilateral. La tomografía de coherencia óptica (OCT) muestra depósitos hiperrefringentes y pequeños quistes intrarretinianos foveales. Se diagnostica de síndrome de Sjögren-Larsson (SSL) y se confirma con el análisis genético. DISCUSIÓN: El SSL ocurre por mutaciones en el gen ALDH3A2. Se identifica una nueva mutación, la c.681-14T>G, no descrita previamente. La OCT permite analizar la mácula y detectar cambios, incluso no visibles oftalmoscópicamente. Su empleo es importante, porque ofrece imágenes específicas del SSL y ayuda al diagnóstico de esta rara enfermedad sistémica

CASE REPORT: A case is presented of a thirty year-old male with ichthyosis, mental retardation, epilepsy and spasticity. Ocular examination showed a best-corrected visual acuity of 0.5 and bilateral crystalline maculopathy. Optical coherence tomography (OCT) revealed focal hyperreflective spots and intrafoveal microcystoid spaces. The diagnosis of Sjögren-Larsson syndrome (SLS) was made, and confirmed by genetic analysis. DISCUSSION: SLS is caused by mutations in the ALDH3A2 gene. A previously unreported novel mutation was identified, c.681-14T>G. Macular OCT makes it possible to find even funduscopy invisible changes. Its use is important because the OCT features of SLS are specific and, therefore, it can help to diagnose this rare systemic disease

Una nueva mutación en el gen CNGA3 causante de acromatopsia incompleta / A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia

CASO CLÍNICO: Varón de 56 años con el diagnóstico clínico de acromatopsia incompleta. En su estudio genético se encontraron 2 mutaciones en heterocigosis en el gen CNGA3 relacionado con la acromatopsia recesiva. Una de ellas la c.1495C>T, no ha sido previamente informada en otros casos de acromatopsia. DISCUSIÓN: La acromatopsia es una enfermedad retiniana congénita de herencia autosómica recesiva. La tasa de mutaciones en el gen CNGA3, localizado en el cromosoma 2q11, oscila entre el 5 y el 25% de los casos, y en su mayoría son producidas por cambios en la secuencia. Este hallazgo confirma el diagnóstico y nos permite realizar un consejo genético

CASE REPORT: A 56-year old male was diagnosed with incomplete achromatopsia. His molecular genetic analysis showed two heterozygous mutations in the CNGA3 gene associated with autosomal recessive achromatopsia. One of them, c.1495C>T, has not been previously reported in achromatopsia. DISCUSSION: Achromatopsia is a congenital autosomal recessive retinal disorder. Mutations in the CNGA3 gene, located at chromosome positions 2q11, accounts for 5-25% of patients affected with this disorder. The vast majority of mutations are missense. This discovery confirms the clinical diagnosis and it allows us to provide genetic counselling

Tomografía de coherencia óptica en el diagnóstico de la acromatopsia / Optical coherence tomography in the diagnosis of achromatopsia

CASO CLÍNICO: Varón de 55 años con nictalopía, fotofobia, mala visión de los colores y nistagmo. Nos planteamos el diagnóstico diferencial entre la acromatopsia y el monocromatismo de conos azules, puesto que ambos son clínicamente indistinguibles. En la tomografía de coherencia óptica (OCT) nos encontramos un patrón de reflectividad foveal característico de la acromatopsia, diagnóstico que posteriormente confirmamos con el estudio genético. DISCUSIÓN: La OCT es un método de diagnóstico por imagen, no invasivo, que permite la visualización de los tejidos con alta resolución. Su aportación en enfermedades clínicamente similares es fundamental porque nos ayuda a hacer el diagnóstico

CASE REPORT: The case of a fifty five year-old male with nyctalopia, photophobia, poor colour vision and nystagmus, is presented. The initial suspected diagnoses were achromatopsia and blue-cone monochromatism, since both are clinically indistinguishable. Optical coherence tomography (OCT) showed the characteristic foveal reflectivity pattern of achromatopsia. This diagnosis was subsequently confirmed by genetic study. DISCUSSION: OCT is a non-invasive diagnostic imaging method that allows tissue morphology to be observed with high resolution. Its use might be of great help to distinguish clinically similar diseases

Sjögren-Larsson syndrome: optical coherence tomography and a novel mutation.

CASE REPORT: A case is presented of a thirty year-old male with ichthyosis, mental retardation, epilepsy and spasticity. Ocular examination showed a best-corrected visual acuity of 0.5 and bilateral crystalline maculopathy. Optical coherence tomography (OCT) revealed focal hyperreflective spots and intrafoveal microcystoid spaces. The diagnosis of Sjögren-Larsson syndrome (SLS) was made, and confirmed by genetic analysis. DISCUSSION: SLS is caused by mutations in the ALDH3A2 gene. A previously unreported novel mutation was identified, c.681-14T>G. Macular OCT makes it possible to find even funduscopy invisible changes. Its use is important because the OCT features of SLS are specific and, therefore, it can help to diagnose this rare systemic disease.

[Optical coherence tomography in the diagnosis of achromatopsia]. / Tomografía de coherencia óptica en el diagnóstico de la acromatopsia.

CASE REPORT: The case of a fifty five year-old male with nyctalopia, photophobia, poor colour vision and nystagmus, is presented. The initial suspected diagnoses were achromatopsia and blue-cone monochromatism, since both are clinically indistinguishable. Optical coherence tomography (OCT) showed the characteristic foveal reflectivity pattern of achromatopsia. This diagnosis was subsequently confirmed by genetic study. DISCUSSION: OCT is a non-invasive diagnostic imaging method that allows tissue morphology to be observed with high resolution. Its use might be of great help to distinguish clinically similar diseases.

[A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia]. / Una nueva mutación en el gen CNGA3 causante de acromatopsia incompleta.

CASE REPORT: A 56-year old male was diagnosed with incomplete achromatopsia. His molecular genetic analysis showed two heterozygous mutations in the CNGA3 gene associated with autosomal recessive achromatopsia. One of them, c.1495C>T, has not been previously reported in achromatopsia. DISCUSSION: Achromatopsia is a congenital autosomal recessive retinal disorder. Mutations in the CNGA3 gene, located at chromosome positions 2q11, accounts for 5-25% of patients affected with this disorder. The vast majority of mutations are missense. This discovery confirms the clinical diagnosis and it allows us to provide genetic counselling.

Trombosis venosas de rama macular en sujetos jóvenes / Macular vein occlusion in young people

Objetivo/método: Se presentan 4 casos de pequeñas oclusiones venosas de rama macular en pacientes con edades comprendidas entre los 41 y 48 años. Todos fueron evaluados mediante angiofluoresceingrafía y seguidos durante mínimo de 3 años. Resultados/conclusiones: Los pacientes presentaban oclusiones con una extensión menor de un cuadrante macular, e independientemente de la pérdida visual inicial, evolucionaron hacia la desaparición clínica y angiográfica con restitución completa de la agudeza. Las trombosis estaban en relación a cruces arteriovenosos y, además de hipertensión arterial, en todos los casos se asociaba al menos otro factor de riesgo obstructivo. Las pequeñas trombosis de rama macular en pacientes jóvenes presentaban un excelente pronóstico visual (AU)

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[Eye injuries in childhood]. / Traumatismos oculares en edad pediátrica.

OBJECTIVE: The purpose of this study was to analyze the epidemiological, damage and preventative aspects of the pediatric ocular injuries treated during the last five years in our hospital. PATIENTS AND METHODS: We have revised all clinical histories of ocular injuries in the Emergency Services of the Asturias Central Hospital from January 1992 to December 1996. Two hundred fifty-seven cases were reviewed and the following parameters were studied: age, sex, kind of injury, causes and places where they originated, hospitalization or no, and functional sequeale. RESULTS: Eighty percent of the cases were male (206 patients). Most, 85.6% (220 cases) did not require hospital attention, while hospitalization was necessary in 14.4% (37 cases). Concerning the latter, 73% (27 cases) were in the hospital less than 7 days, while the other 27% (10 cases) were hospitalized from 8 to 14 days. As for the cause of and the location where the injuries took place, our results were as follows: school-home 33%, playtime-leisure 32%, sports accidents 12%, assaults 10%, traffic accidents 3% and unknown causes 10%. Minor injuries tend to imply the full restitution of sight (a large percentage were revised by their own ophthalmologist). Serious injuries caused the following functional losses: loss of eyeball in 2 cases (traffic accident), monolateral blindness in 2 cases serious amblyopia in 10 cases, and moderate amblyopia in 6 cases. CONCLUSIONS: Males suffer injuries 4 times more frequently than females and these are very infrequent before the age of 3 years. Traffic accident injuries are rare in comparison to in adulthood. Important immediate visual sequale were seen in 7.8% of the cases, although these may also appear later in cases that at first present good function during the acute phase.