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Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
The authors present their telephone survey data of 10 patients with a mean age of 24.4 years regarding their opinion on gene therapy for their Leber’s congenital amaurosis. Patients were recruited at the Hospital for Sick Children, Toronto. Of the...Usher syndrome: an overview
Usher syndrome is the most common hereditary condition that affects both vision and hearing. It is an autosomal recessive condition characterised by retinitis pigmentosa (RP) and bilateral sensorineural hearing loss [1,2]. Usher syndrome is the cause of approximately 10% of...
The prevalence of macular cysts in patients with clinical cone-rod dystrophy determined by spectral domain optical coherence tomography
Cone-rod dystrophy is a progressive photoreceptor disorder which has multiple inheritance patterns. It is rare, with a prevalence of 1 in 40,000. Macular cysts are well recognised in other photoreceptor conditions such as retinitis pigments and choroideraemia, while they are...Disseminated cutaneous zoster – a masquerade
Reactivation of varicella zoster infection in the elderly commonly presents to ophthalmologists as herpes zoster ophthalmicus (HZO), affecting the Va trigeminal dermatome. In patients with impaired immunity, zoster infection occurs with increased severity and may be complicated by visceral and...An unusual presentation of sarcoidosis
*Equally contributing co-first authors. Case report A 45-year-old man presented to his local optometrist with a three-week history of severe intermittent left eye pain with associated blurred vision and tenderness around his left temple. Two days prior, he developed weakness...A curry a day could keep the ophthalmologist away
Simerdip Kaur takes a look at the latest ophthalmology-related news stories and asks which are based on facts and which are ‘fake news’. Headline: A curry a day could keep the ophthalmologist away The dietary supplement market is a multibillion-dollar...Cyanoacrylate nail glue accidentally instilled into the eye instead of eye drops
Three hundred thousand cataract operations take place each year in the UK alone and each patient will receive a four week course of drops in order to cover them for any postoperative inflammation or infection. Accidental instillation of cyanoacrylate glue...A career in uveitis
As he retires from clinical practice, the author looks back on his long career in uveitis and how care of these patients has changed dramatically since his days as an undergraduate. My trainees and fellows are often bored by my...New President and President-elect of the UK and Éire Glaucoma Society announced
Glaucoma UK has announced the appointments of the new President and President-elect for its UK and Éire Glaucoma Society (UKEGS).
Experiences of patients and their families and the impact of Leber hereditary optic neuropathy
The authors present a qualitative study which aimed to explore the impact of Leber hereditary optic neuropathy (LHON) from diagnosis to present day on both patients and their families. Individuals with LHON and their families were purposively sampled from four...
Germline testing for uveal melanoma
The authors present a study of 114 consecutive patients presenting with uveal melanoma. Between 1 December 2019 and 1 November 2021 all patients over 18-years-old presenting to their centre with uveal melanoma were offered germline testing for variants in BAP1,...
