Síndrome de Kjellin: paraparesia espástica y distrofia en patrón multifocal que simula fundus flavimaculatus / Kjellin's syndrome: Spastic paraplegia and multifocal pattern dystrophy simulating fundus flavimaculatus

El síndrome de Kjellin es un raro síndrome neurooftalmológico de herencia autosómica recesiva cuyo diagnóstico se basa en la apariencia del fondo de ojo en un paciente con paraparesia espástica, dificultad de aprendizaje, amiotrofia y cuerpo calloso delgado. Presentamos el caso de un varón de 42 años sin síntomas visuales, remitido por el Servicio de Neurología por cuadro degenerativo a estudio. En la exploración oftalmológica se objetiva una distrofia en patrón multifocal que simula fundus flavimaculatus y un retardo en la conducción de los potenciales evocados visuales. Se revisan las pruebas realizadas hasta ese momento y se solicita análisis genético para los subtipos 11 y 15 de paraparesia espástica hereditaria, que son los asociados a cambios maculares. Se demuestra una variante patogénica en el gen SPG11 que explica las manifestaciones clínicas del paciente. Los hallazgos oftalmológicos fueron clave en el diagnóstico de este raro síndrome (AU)

Kjellin's syndrome is a rare autosomal recessive hereditary neuro-ophthalmologic syndrome. The diagnosis of Kjellin's syndrome is based on the retinal appearance in a patient with spastic paraplegia, learning difficulties, amyotrophy and thin corpus callosum. We present the case of a 42-year-old man without visual symptoms, referred to study from the Neurology Service due to a degenerative condition. On ophthalmologic examination is found a multifocal pattern dystrophy simulating fundus flavimaculatus and a delay in the visual evoked potential responses. The performed tests are reviewed and a genetic analysis for subtypes 11 and 15 of hereditary spastic paraplegia are requested. These subtypes are associated with macular changes. A pathogenic variant in the SPG11 gene is identified, which explains the patient's clinical manifestations. Ophthalmological findings were key in the diagnosis of this rare syndrome (AU)

Kjellin's syndrome: Spastic paraplegia and multifocal pattern dystrophy simulating fundus flavimaculatus.

Kjellin's syndrome is a rare autosomal recessive hereditary neuro-ophthalmologic syndrome. The diagnosis of Kjellin's syndrome is based on the retinal appearance in a patient with spastic paraplegia, learning difficulties, amyotrophy and thin corpus callosum. We present the case of a 42-years-old man without visual symptoms, referred to study from the Neurology Service due to a degenerative condition. On ophthalmologic examination is found a multifocal pattern dystrophy simulating fundus flavimaculatus and a delay in the visual evoked potential responses. The performed tests are reviewed and a genetic analysis for subtypes 11 and 15 of hereditary spastic paraplegia are requested. These subtypes are associated with macular changes. A pathogenic variant in the SPG 11 gene is identified, which explains the patient's clinical manifestations. Ophthalmological findings were key in the diagnosis of this rare syndrome.

Unilateral exophthalmos secondary to esophageal adenocarcinoma metastasis to the medial rectus muscle. / Exoftalmos unilateral secundario a metástasis en músculo recto interno de adenocarcinoma de esófago.

A case is presented on a 51 year-old man with stage IV oesophageal adenocarcinoma. The patient was referred by the Oncology Department urgently for a same-day assessment by an ophthalmologist due to two weeks of severe unilateral exophthalmos and binocular diplopia. A comprehensive eye exam revealed the presence of an axial non-reductive exophthalmos and a limitation in left eye levoduction. A computed tomography scan was performed that showed a multiple lobed, intra-and extra-conal, heterogeneous left orbital mass, that surrounded the internal rectus muscle, compatible with metastasis, as well as another small extraconal mass at the base of the contralateral orbit. Palliative radiotherapy was then indicated. Metastases in the extraocular muscles are a very rare finding, but should be suspected in a case of unilateral exophthalmos and, if necessary, refer the patient to have the corresponding complementary tests performed.

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 Parinaud 'plus' en paciente con disgerminoma / Parinaud 'plus' syndrome in a patient with dysgerminoma

CASI CLÍNICO: Varón de 33 años con síndrome de Parinaud, exotropía y atrofia óptica del OI postpapiledema. Tras las pruebas de neuroimagen y biopsia estereotáxica se diagnostica de germinoma pineal. Recibe quimio y radioterapia con respuesta completa del tumor. El síndrome de Parinaud persiste un año después del diagnóstico, y rechaza la corrección del estrabismo. DISCUSIÓN: El síndrome de Parinaud consiste en una parálisis supranuclear de la mirada vertical por daño deltectum mesencefálico. El compromiso de las estructuras adyacentes da lugar al síndrome de Parinaud «plus». Ante un síndrome de Parinaud acompañado de diplopía (síndrome de Parinaud «plus») se debe pensar en la extensión de la lesión a otras áreas adyacentes

CLINICAL CASE: A 33-year-old male diagnosed with Parinaud's syndrome, exotropia and post-papillary oedema optic atrophy in his left eye. A pineal germinoma was diagnosed after performing neuroimaging scans and a stereotactic biopsy. He was treated with chemotherapy and radiotherapy, showing a complete pathological response. The Parinaud's syndrome persists one year after diagnosis and the patient has refused to have strabismus surgery. DISCUSSION: Parinaud's syndrome consists of a supranuclear vertical gaze palsy resulting from damage to the midbrain tectum. The involvement of adjacent structures leads to the «Parinaud-plus» syndrome. When a Parinaud's syndrome is accompanied by diplopia («Parinaud-plus» syndrome), extension of the injury into adjacent areas must be considered

Parinaud «plus¼ syndrome in a patient with dysgerminoma. / Síndrome de Parinaud «plus¼ en paciente con disgerminoma.

CLINICAL CASE: A 33-year-old male diagnosed with Parinaud's syndrome, exotropia and post-papillary oedema optic atrophy in his left eye. A pineal germinoma was diagnosed after performing neuroimaging scans and a stereotactic biopsy. He was treated with chemotherapy and radiotherapy, showing a complete pathological response. The Parinaud's syndrome persists one year after diagnosis and the patient has refused to have strabismus surgery. DISCUSSION: Parinaud's syndrome consists of a supranuclear vertical gaze palsy resulting from damage to the midbrain tectum. The involvement of adjacent structures leads to the «Parinaud-plus¼ syndrome. When a Parinaud's syndrome is accompanied by diplopia («Parinaud-plus¼ syndrome), extension of the injury into adjacent areas must be considered.

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.

Valor predictivo de la tomografía de coherencia óptica en la evolución del adenocarcinoma pulmonar con metástasis coroideas / Predictive value of optical coherence tomography on the outcome of lung adenocarcinoma with choroidal metastases

CASO CLÍNICO: Varón, 59 años, con adenocarcinoma pulmonar estadio IV , en tratamiento paliativo con quimioterapia sistémica. Acude a nuestro servicio por visión borrosa bilateral. En el fondo de ojo se observan metástasis coroideas bilaterales con compromiso macular, y en tomografía de coherencia óptica (OCT) desprendimiento neurosensorial en ambos ojos. Este se reduce drásticamente con el tratamiento quimioterápico, anticipándose a la mejoría clínica y radiológica del paciente. DISCUSIÓN: La OCT puede ser una buena herramienta para vaticinar la respuesta al tratamiento sistémico en casos de adenocarcinoma pulmonar asociado a metástasis coroideas

CLINICAL CASE: A 59 year-old male, with the diagnosis of lung adenocarcinoma stage IV , following palliative systemic chemotherapy treatment. He was referred to our department due to bilateral blurred vision. In the eye-fundus we observed: bilateral choroidal metastases with macular involvement, and in optical coherence tomography (OCT): neurosensory detachment in both eyes. This neurosensory detachment showed improvement with chemotherapy before the clinical and radiologic improvement. DISCUSSION: OCT could be a great tool in order to predict the response to systemic treatment in cases of lung adenocarcinoma associated with choroidal metastases

[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.

[Predictive value of optical coherence tomography on the outcome of lung adenocarcinoma with choroidal metastases]. / Valor predictivo de la tomografía de coherencia óptica en la evolución del adenocarcinoma pulmonar con metástasis coroideas.

CLINICAL CASE: A 59 year-old male, with the diagnosis of lung adenocarcinoma stage iv, following palliative systemic chemotherapy treatment. He was referred to our department due to bilateral blurred vision. In the eye-fundus we observed: bilateral choroidal metastases with macular involvement, and in optical coherence tomography (OCT): neurosensory detachment in both eyes. This neurosensory detachment showed improvement with chemotherapy before the clinical and radiologic improvement. DISCUSSION: OCT could be a great tool in order to predict the response to systemic treatment in cases of lung adenocarcinoma associated with choroidal metastases.

Importance of tuberculosis screening before inhibiting tumour necrosis factor-alpha therapy.

INTRODUCTION: There has been an increase in the incidence of tuberculosis infection in recent years, due to the increasing use of drugs inhibiting tumour necrosis factor-alpha (anti-TNFα) in the treatment of inflammatory diseases. CASE REPORT: We report the case of a male patient being treated with infliximab (anti-TNFα) who developed disseminated tuberculosis with ocular involvement. CONCLUSION: It is very important to conduct a proper screening to detect patients at risk for tuberculosis before starting treatment with these drugs. For this purpose, the QuantiFERON®-TB Gold in Tube (Interferon Gamma Release Assay, IGRA) is presented as an alternative screening test with high sensitivity and specificity.

Importancia del screening de tuberculosis previo al tratamiento con inhibidores del factor de necrosis tumoral alfa / Importance of tuberculosis screening before inhibiting tumour necrosis factor-alpha therapy

Introducción: En los últimos años se ha registrado un aumento en la incidencia de infección tuberculosa, debido a la utilización cada vez mayor de fármacos inhibidores del factor de necrosis tumoral alfa (anti-TNF alfa) en el tratamiento de enfermedades inflamatorias. Caso clínico: Se describe el caso de un varón en tratamiento con infliximab (anti-TNF alfa) que desarrolla tuberculosis diseminada con afectación ocular. Conclusión: Es de gran importancia la realización de un screening apropiado para detectar pacientes con riesgo de desarrollar tuberculosis antes de iniciar tratamiento con dichos fármacos. Con este propósito, el QuantiFERON®-TB Gold in Tube (Interferon Gamma Release Assay, IGRA) se presenta como una alternativa de alta sensibilidad y especificidad(AU)

Introduction: There has been an increase in the incidence of tuberculosis infection in recent years, due to the increasing use of drugs inhibiting tumour necrosis factor-alpha (anti-TNF alpha) in the treatment of inflammatory diseases. Case report: We report the case of a male patient being treated with infliximab (anti-TNF alpha) who developed disseminated tuberculosis with ocular involvement. Conclusion: It is very important to conduct a proper screening to detect patients at risk for tuberculosis before starting treatment with these drugs. For this purpose, the QuantiFERON®-TB Gold in Tube (Interferon Gamma Release Assay, IGRA) is presented as an alternative screening test with high sensitivity and specificity(AU)

[Pegylated interferon and ribavirin associated retinopathy in patients with hepatitis C]. / Retinopatía asociada a interferón pegilado y ribavirina en pacientes con hepatitis C.

CASE REPORT: We describe two patients with chronic hepatitis C, treated with pegylated interferon and ribavirin, who developed multiple cotton-wool spots in the retina of both eyes. The ocular findings were identified as pegylated interferon associated retinopathy, and in one case spontaneously resolved and in the other after the treatment was withdrawn. DISCUSSION: Interferon is an immunomodulating cytokine used as a first line treatment of hepatitis C. Numerous adverse effects have been reported, but ocular ones are less known. We believe that periodic ophthalmological examinations during this treatment are required in order to detect these complications, which can be serious.