You searched for "genetic"
Shedding light on Wolfram syndrome: The unveiling of a delayed diagnosis
Wolfram syndrome 1 (WS1) was first described by Wolfram and Wagener in 1938 and it’s a rare neurodegenerative, progressive disorder, also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) [1]. We present an atypical case of WS...My Top Five: Promising gene therapies for ocular conditions
Gene therapy, a pivotal advancement in modern medicine, particularly shines in ophthalmology. By targeting defective genes with engineered vectors, this approach promises significant strides in treating inherited retinal diseases. This article reviews the top five gene therapies in late-stage trials,...My Top Five: Promising gene therapies for ocular conditions
Gene therapy, a pivotal advancement in modern medicine, particularly shines in ophthalmology. By targeting defective genes with engineered vectors, this approach promises significant strides in treating inherited retinal diseases. This article reviews the top five gene therapies in late-stage trials,...In conversation with Robert Henderson
Revolutionary eye treatments offer hope for children facing blindness from CLN2 batten disease. Robert Henderson discusses this, and his use of Heidelberg Engineering’s Spectralis device to better combat it. Pioneering research from Great Ormond Street Hospital (GOSH) and the University...Regulatory drug evaluations and expedited review initiatives: EU and US perspectives
The European Medicines Agency (EMA) and United States Food and Drug Administration (FDA) each conduct independent assessments of benefit-risk profile when evaluating applications to market new or modified medicines, and their respective decision-making is guided by distinct legislation, procedures and...Zeiss field machines, public Wi-Fi risks and IoT scanning
End of support for old field machines Zeiss have recently announced that they are withdrawing support contracts for many of their older 7 series Humphrey Field Analysers (HFAs) in November 2017. They have confirmed maintenance contracts can continue, but repairs...Trans-sinus endoscopic removal of retrobulbar air gun pellet within the orbital apex
Injuries to the eye have been widely reported in medical literature due to a variety of mechanisms causing significant morbidity and occasional unexpected mortality for the patient [1]. It is often wrongly assumed that air gun pellets lack this potential....How to pass the FRCOphth part 2 written
The part 2 written exam comprises of 180 multiple choice questions – spread over two 120-minute sessions. According to the most recent college exam reports, the pass rate ranged from 45 to 70% in 2019/2020. Most trainees seem to sit...Uveal melanoma
Uveal melanoma is the most common primary intraocular tumour. However, they are still rare, with an incidence of 2-8 per million [1]. The presence of a choroidal naevus is a risk factor for uveal melanoma [1]. Patients with choroidal lesions...
Diagnosis of ocular tuberculosis
This review article provides an update on the methods diagnosing ocular tuberculosis (TB), the difficulties in making the diagnosis and makes recommendations to a more accurate diagnosis by combining the available diagnostic tests. Today ocular TB remains a presumptive clinical...Pathophysiology of diabetic macular oedema: why combination therapy may be better
The prevalence of diabetes has continued to increase over the years. It is currently estimated that there are 382 million with diabetes worldwide in 2013, and that this figure is expected to rise to 592 million by 2035 [1]. In...
