You searched for "genetic"
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,...
Human leucocyte antigen association of patients with Stevens-Johnson syndrome in Han Chinese
This is a retrospective study of the human leucocyte antigen (HLA) polymorphism pattern of cold medicine-induced patients with Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) (n=33) and 98 control patients recruited between 2016-2017 in Taiwan. Severe ocular complications (SOC) was...
Ocular findings in children with myasthenia
This is a retrospective audit of paediatric myasthenic patients presenting to Great Ormond Street (GOSH) between January 2016 and January 2020. During this period there were 49 children, including 27 with juvenile myasthenia (JMG) and the rest as congenital myasthenia...
Using a tumour registry to investigate optic nerve gliomas
This study is a retrospective comparative analysis. Patients with optic nerve glioma and pilocytic astrocytoma were identified through the Surveillance, Epidemiology and End Results (SEER) cancer registry covering a 42-year period using standardised codes. The following data was extracted: basic...
Associated ocular and systemic disease in congenital cataract
The authors examined the impact of accompanying systemic diseases on surgical planning and the postoperative period in patients undergoing congenital cataract surgery. This was a retrospective study over 2010–2024 of 142 patients (239 eyes): 75 females and 67 males. 45...
Ethnic variation in strabismus patterns in Down syndrome
The authors present a systematic review and meta-analysis evaluating the prevalence and aetiology of strabismus in individuals with Down syndrome, with particular focus on ethnic variation in the esotropia to exotropia ratio. Data from multiple studies across diverse populations were...The paediatric cataract: an overview of the embryology and pathophysiology
In the first of the two articles (see Part 2 here) on paediatric cataracts, Samuel Aryee reviews the aetiology of this condition. Cataracts arise from opacification of the natural transparent lens, which can cause partial or total blindness. Although the...Strengthening the signal: Advancing oculomics research for systemic health insights
Oculomics, the study of how ocular structure reflects systemic health, is poised to become an integral tool for predicting, triaging, and diagnosing a wide range of diseases. By analysing data from the eye, particularly the retina, healthcare providers can gain...Yorkshire Retina Society Winter Meeting 2024
by Madiah Mahmood, Junior Medical Education Fellow, Bradford Teaching Hospitals and Foundation Trust, UK; Ewan McCallum, Consultant Ophthalmologist, Bradford Teaching Hospitals and Foundation Trust, UK. The Yorkshire Retina Society is one of the largest regional subspecialty societies in the UK,...Redefining healthcare through the eyes
The future of healthcare is being shaped by innovation in eyecare and in particular a field known as oculomics. This discipline leverages ocular biomarkers to provide insights into various health conditions, including cardiovascular diseases and psychological or neurological disorders [1]....
