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.

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.

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.

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.

[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.

[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.

[Exophthalmos secondary to a lateral rectus muscle metastasis]. / Exoftalmos secundario a metástasis en músculo recto externo.

CASE REPORT: 60-year-old male, with metastatic adenocarcinoma of the rectum-sigmoid colon, who developed exophthalmos due to a tumour in the lateral rectus muscle, compatible with a diagnosis of metastasis. DISCUSSION: Metastasis in the extraocular muscles are very uncommon, but should form part of the differential diagnosis of any patient presenting exophthalmos, since although the majority of patients with such metastasis have a previously diagnosed malignant tumour, there are cases where they lead to the diagnosis of the primary tumour.

[Bilateral exophthalmos secondary to right carotid-cavernous sinus fistula]. / Exoftalmos bilateral secundario a fístula carótido-cavernosa derecha.

CASE REPORT: Male with cranioencephalic trauma who rapidly developed a marked bilateral exophthalmos. A CT was requested, the CT findings suggest a right-side carotid-cavernous sinus fistula (CCSF), which was confirmed by means of a cerebral arteriography. Following treatment with intravascular balloon pump the patient's condition improved quite spectacularly. DISCUSSION: CCSFs are anomalous communications between the cavernous sinus and the carotid artery which may be of a spontaneous nature, a result of trauma or iatrogenia and which have hemodynamic repercussions throughout the drainage area of the cavernous sinus. Sonography, CT or MR are useful whilst a cerebral angiography is required for diagnosis. CCSFs resulting from trauma normally require endovascular therapy with selective embolization techniques.

[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.