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Limitations of next generation sequencing

This is a report of a young female patient with clinically diagnosed retinitis pigmentosa who underwent genetic testing using an inherited retinal disease panel and whole exome sequencing by next generation sequencing (NGS) technology. This approach did not identify any...

Choroideremia in women

The authors report a questionnaire-based study of female carriers of choroideremia, an X-linked inherited chorioretinal dystrophy. As an X-linked condition the full clinical features are predominantly seen in men but a proportion of women suffer some morbidity, likely due to...

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,...

Risk of developing pseudotumor cerebri in women using a levonorgesteral intrauterine device

Pseudotumor cerebri (PCT) is a disorder causing increased intracranial pressure without a mass lesion, usually seen in obese women of childbearing age. Idiopathic intracranial hypertension is an idiopathic form of the disorder, but several medications have been associated with the...

Anterior and posterior capsular opacification with the Tecnis ZCBOO and AcrySof SA60AT IOL

This a randomised, controlled, prospective and double-blind study comparing the anterior capsular opacification (ACO) and posterior capsular opacification (PCO) outcomes with two types of single-piece hydrophobic acrylic intraocular lenses (IOL), and AcrySof SA60AT – Group A, and Tecnis ZCBOO –...

Conjunctival inflammation in glaucoma patients

Numerous studies have demonstrated that topical medications and preservatives used for the management of glaucoma can induce significant histopathologic and inflammatory changes in the ocular surface. This study describes an increased expression of major histocompatibility complex class II antigen HLA-DR,...

Portable corneal topography – exploration of a prototype

Ophthalmic imaging devices, such as corneal topographers, are not widespread in the developing world. A small device that connects to a smartphone might be a solution to improve developing nation access to corneal imaging. I recently had the opportunity to...