Giant cell arteritis is a medical emergency because of the high risk of irreversible blindness and cerebrovascular accidents. While elevated inflammatory markers, temporal artery biopsy and modern imaging modalities are useful diagnostic aids, thorough history taking and clinical acumen still remain key elements in establishing a timely diagnosis. Glucocorticoids are the cornerstone of treatment but are associated with high relapse rates and side effects. Targeted biologic agents may open up new treatment approaches in the future.

A 29-year-old lady receiving repeated blood transfusions for β thalassemia since childhood, presented with rapidly deteriorating symptoms of night blindness and peripheral visual field loss. She was recently commenced on high-dose intravenous desferrioxamine for reducing the systemic iron overload. Clinical and investigative findings were consistent with desferrioxamine-related pigmentary retinopathy and optic neuropathy. Recovery was partial following cessation of desferrioxamine. This report highlights the ocular side-effects of desferrioxamine mesylate and the need to be vigilant in patients on high doses of desferrioxamine.

BackgroundThe lack of an appropriate retina-specific patient-reported outcome instrument restricts the understanding of the full impact of hereditary retinal diseases and other less common but potentially blinding acquired retinal diseases such as, vascular occlusions, epiretinal membrane, macular hole, central serous retinopathy and other vitreoretinopathies on quality of life. This study aims to explore the quality of life issues in people with hereditary retinal diseases and acquired retinal diseases to develop disease-specific patient-reported outcome instruments.MethodsA qualitative research methodology to understand the lived experiences of people with retinal diseases was carried out. Data were collected through semistructured interviews. The coding, aggregation and theme development was carried out using the NVivo −10 software.ResultsSeventy-nine interviews were conducted with participants with hereditary retinal diseases (n = 32; median age = 57 years) and acquired retinal diseases (n = 47; median age = 73 years). We identified nine quality of life themes (domains) relevant to people with retinal diseases. Difficulty in performing important day-to-day activities (activity limitation) was the most prominent quality of life issue in the hereditary retinal diseases group whereas concerns about health, disease outcome and personal safety (health concerns) was the most prominent quality of life issue in the acquired retinal diseases group. Participants with hereditary retinal diseases had more issues with social interaction (social well-being), problems with mobility and orientation (mobility), and effect on work and finance (economic) than participants with acquired retinal diseases. On the contrary, participants with acquired retinal diseases reported more inconveniences (conveniences) than participants with hereditary retinal diseases, which were mostly attributed to treatment. Participants with hereditary retinal diseases were coping better compared to participants with acquired retinal diseases.ConclusionsOur study found that participants with both hereditary and acquired retinal diseases are living with myriad of disease-specific quality of life issues. Many of these issues are completely different and unique to each disease group. Hence, these group of diseases would need separate patient-reported outcome instruments to capture the disease-specific quality of life impacts.Electronic supplementary materialThe online version of this article (10.1186/s41687-017-0023-4) contains supplementary material, which is available to authorized users.

We report a patient with bilateral choroidal metastasis from disseminated cervical squamous cell carcinoma. A 52-year-old woman presented with progressive bilateral visual loss due to choroidal masses in both eyes. The fundus examination revealed posterior serous retinal detachment in both eyes associated with creamy choroidal lesions. A thorough systemic work-up revealed choroidal metastasis from a squamous cell carcinoma of the cervix. This case highlights the importance of a thorough systemic evaluation in patients with choroidal tumours.

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