Publications by authors named "S Chamney"
Article Synopsis
- Proteus syndrome leads to uneven and excessive growth affecting bones, skin, fat, and nerves, presenting unique challenges in patients.
- The case study discusses a 10-year-old girl with this syndrome who experienced several severe eye issues, including glaucoma and vision loss.
- Urgent imaging revealed significant bone overgrowth causing pressure on her optic nerves, and successful surgery relieved this pressure, improving her vision.
Article Synopsis
- - Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious mucocutaneous reactions, often leading to severe eye complications in around 70% of SJS patients, with 35% facing chronic issues.
- - An unusual case of isolated ocular SJS in a patient with ulcerative colitis treated with Infliximab highlights the diagnostic challenges due to the atypical onset and previous discontinuation of the trigger medication.
- - Effective treatment included high-dose IV steroids and dual immunosuppression, emphasizing the importance of intensive eye care to minimize long-term vision loss in SJS patients.
Objectives: The purpose of this study was to examine the aetiology, investigation and management of ophthalmia neonatorum (ON) presenting to a tertiary referral children's hospital over 5 years.
Methods: The eye swab data of all neonates presenting to Children's Health Ireland at Temple Street (Dublin, Ireland) between 1st January 2013 and 3rd September 2018 was analysed. The medical records of all patients with positive eye swab results were retrospectively reviewed.
A 29-year-old lady was diagnosed with lecithin:cholesterol acyltransferase (LCAT) deficiency having presented with bilateral corneal clouding, severely reduced high density lipoproteins cholesterol, and proteinuria. She is a compound heterozygote with two LCAT gene mutations, one of which is novel, c.321C>A in exon 3.
View Article and Find Full Text PDFPurposeThe aim of our study was to analyse paediatric sight-impairment trends in Northern Ireland (NI) over a 28-year period to better understand the impact which changes in health-care provision may be having on childhood blindness and to enable us to assess our progress towards achieving the World Health Organisation (WHO) aims.MethodsA database of Certificates of Visual Impairment completed for NI children aged <16 years was used to determine the cause of sight impairment from 1984 to 2011. Causes were classified into preventable or treatable conditions and analysed for trends.
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