You searched for "gene therapy"

193 results found

Visual outcomes, visual fields and optical coherence tomography in paediatric craniopharyngioma

This study reviews the visual outcomes of ten patients under the age of 18 years with craniopharyngioma. The paper also reviews the correlation between visual field (VF) testing and optical coherence tomography (OCT) examination and evaluates the role of OCT...

Second primary tumours after sebaceous carcinoma

This is a study investigating the risk of developing a second primary malignancy in patients previously diagnosed with eyelid sebaceous cell carcinoma. The records of 559 patients who were diagnosed with sebaceous cell carcinoma between 2000 and 2016 were reviewed,...

Therapeutic options for advanced cutaneous basal (BCC) and squamous cell carcinomas (SCC)

This article discusses the use of topical and systemic therapy in the management of advanced periocular tumours. It focuses on those that have gained United States Food and Drug Administration approval; namely imiquimod, vismodegib, sonidegib, pembrolizumab and cemiplimab. Imiquimod is...

Ophthalmic presentations and outcomes in Erdheim-Chester disease

This is a comprehensive article describing clinical manifestations and pathogenesis of Erdheim-Chester disease (ECD) followed by a literature review of the available treatments. The authors look to compare historical treatment (HT) with vemurafenib, a BRAF inhibitor. ECD is a non-Langerhans...

The effect of orbital decompression on upper eyelid retraction

This is a systematic review and meta-analysis on whether there is a change in upper lid retraction following orbital decompression. Traditional teaching states that the order of surgery for thyroid eye disease should be decompression firstly, followed by squint surgery...

Chronic lymphocytic leukaemia (CLL) of the lacrimal sac

The authors present a case series of three patients with known CLL, two of which presented with mass and epiphora and one case with epiphora alone. All three patients had initially being diagnosed and were treated for chronic dacryocystitis. Histopathological...

Retinoblastoma chemotherapeutic drugs and their toxic effects on RPE cells

There is reported clinical evidence of retinal pigment epithelium (RPE) alterations after intra-arterial (IAC) and intravitreal chemotherapy (IViC) of retinoblastoma. The purpose of this study was to investigate the cellular toxic effects of melphalan, topotecan and carboplatin on the RPE...

Germline mutation risk in solitary unilateral retinoblastoma

This study aimed to determine the true risk for germline mutation in a child presenting with solitary unilateral RB and whether this risk differs by age at presentation. This was a retrospective review of 482 cases from 1972-2020. Age groups...

Retinoblastoma mortality associations with choroidal and optic nerve invasion

The authors present a retrospective cohort study. Data was extracted from the National Cancer Institute’s Surveillance Epidemiology and End Results (SEER) database, based in the US and founded in 1973. Cases of retinoblastoma were extracted using the inclusion criteria of...

Using modified staging criteria to determine optic nerve invasion in retinoblastoma

This paper reports the use of a modified staging criteria for optic nerve invasion in extraocular retinoblastoma and its correlation with treatment outcomes in 21 patients. The average age at presentation was 41 months (7–120) and there were 14 unilateral...

Brain tumours in adults: the essentials for an ophthalmologist

The author provides a review of the common intracranial tumours in adults (other than pituitaries) which may present to an ophthalmologist. Primary malignant brain tumours comprise 3% of adult cancers but with an ageing population such tumours are becoming more...

The role of inflammation in the pathophysiology of DMO

Diabetic macular oedema (DMO) is a major cause of visual loss in diabetes, with a complex multifactorial pathogenesis. In the UK alone it is estimated that there are nearly 2.5 million diabetic patients aged over 12 years. Approximately 65,000 of...