Publications by authors named "Kirk A J Stephenson"

Purpose: To describe the first reported instance of an acute chorioretinal inflammatory response to cabozantinib.

Methods: Case report.

Results: A 54-year-old Asian male presented with blurred vision 2 weeks following the commencement of cabozantinib for metastatic renal cell carcinoma.

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Objective: To assess the effect of prompt engineering on the accuracy, comprehensiveness, readability, and empathy of large language model (LLM)-generated responses to patient questions regarding retinal disease.

Design: Prospective qualitative study.

Participants: Retina specialists, ChatGPT3.

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Article Synopsis
  • Waardenburg Syndrome (WS) can manifest as sensorineural hearing loss and changes in skin pigmentation, potentially mimicking serious conditions like melanoma.
  • A case involving two siblings showed choroidal pigmentary abnormalities, but further examinations revealed no tumor growth, leading to a diagnosis of WS type 2A due to specific symptoms and genetic testing.
  • Understanding the symptoms of WS and utilizing genetic testing can help rule out malignancies, treat hearing loss, and identify affected family members early on.
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Background: We investigated Leber hereditary optic neuropathy (LHON) families for variation in peripapillary retinal nerve fibre layer thickness and perfusion, and associated optic nerve dysfunction.

Method: A group of LHON-affected patients (n=12) and their asymptomatic maternal relatives (n=16) underwent examination including visual acuity (VA), visual-evoked-potential and optic nerve imaging including optical coherence tomography (OCT) and OCT angiography of the peripapillary retinal nerve fibre layer (RNFL). A control sample was also examined (n=10).

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(1) Background: Inherited retinal degenertions are rare conditions which may have a dramatic impact on the daily life of those affected and how they interact with their environment. Coordination of clinical services via an ophthalmic genetics multidisciplinary team (OG-MDT) allows better efficiency of time and resources to reach diagnoses and facilitate patient needs. (2) Methods: This clinical case series was conducted by a retrospective review of patient records for patients enrolled in the Target 5000 programme and managed by the OG-MDT, at the Mater Hospital Dublin, Ireland ( = 865) (3) Results: Herein we describe clinical cases and how the use of the OG-MDT optimizes care for isolated and syndromic IRD pedigrees.

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Purpose: The purpose of this study was to demonstrate the utility of polarization-diversity optical coherence tomography (PD-OCT), a noninvasive imaging technique with melanin-specific contrast, in the quantitative and qualitative assessment of choroidal nevi.

Methods: Nevi were imaged with a custom-built 55-degree field-of-view (FOV) 400 kHz PD-OCT system. Imaging features on PD-OCT were compared to those on fundus photography, auto-fluorescence, ultrasound, and non-PD-OCT images.

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Article Synopsis
  • Usher syndrome (USH) is a genetic condition causing deaf-blindness, characterized by retinal degeneration, hearing loss, and balance issues, and affects a significant portion of the Irish population.
  • In a study of 145 Irish USH patients, the majority were classified as USH2, with a genetic diagnosis achieved in over 82% of cases, primarily linked to mutations in MYO7A or USH2A genes.
  • The findings suggest that understanding the genetic diversity of USH in Ireland could improve clinical management and access to treatments for affected individuals and their families.
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Background: Solar maculopathy (SM) is a rare cause of acquired maculopathy related to direct viewing of the sun. Primary symptoms include central scotomata, blurred vision and/or metamorphopsia due to thermal/photochemical damage to foveal photoreceptors.

Methods: Patients were identified from clinic records surrounding a solar eclipse.

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Article Synopsis
  • - Over 15% of patients with inherited retinal degeneration have been diagnosed with Stargardt disease (STGD1), a genetic disorder linked to mutations in the ABCA4 gene, which can be identified through various genetic testing methods.
  • - A specific pathogenic variant, ABCA4 c.4539 + 2028C > T, was found in 25 individuals from an Irish STGD1 cohort and is significant for its role in a pseudoexon inclusion that affects retinal function.
  • - The study highlights the importance of identifying genetic variants within populations, particularly founder variants, as they can aid in diagnosing STGD1 and understanding the condition's severity, showing potential relevance for many individuals of Irish descent worldwide.
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Purpose: To evaluate the impact of clinical protocol change via active minimisation on the number of general anaesthetic (GA)/sedation episodes for diagnostic ophthalmic purposes at Children's Health Ireland at Temple Street (CHI-TS), Dublin, Ireland, from 2016 to 2019, inclusive. Change was implemented following published cautionary principles in 2016 by the FDA regarding the potential neurotoxic risk from multiple GA exposure in children.

Methods: Retrospective analysis of electronic operating theatre records was completed using procedure codes "Ophthalmological examination" and "Examination of fundi".

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Leber Hereditary Optic Neuropathy (LHON) affects a minority of carriers of causative mitochondrial DNA mutations. We investigated a cohort of patients with LHON, including m.11778G>A, m.

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Aim: The aim of this retrospective review was to analyse the frequency of patients presenting with flashes and/or floaters (F/F) on bright versus dark days to the eye emergency department of a tertiary referral hospital (the Mater Misericordiae University Hospital) over a 3-year period. The diagnostic and clinical outcomes of F/F presentations were also analysed.

Methods: This retrospective study assessed eye casualty attendances between January 2018 and December 2020.

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The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective clinical management while narrowing the genetic spectrum for targeted molecular diagnostics. This case study describes two not knowingly related adult cases of -associated retinopathy and nanophthalmos (MARN). Structural features including short axial lengths (mean 16.

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Clinical Relevance: Eyecare practitioners' management of ocular surface disease is essential in managing increasing dry eye disease (DED) presentations including ocular neuropathic pain (ONP). Topical Proxymetacaine offers a simple, readily available and practical method of detecting ONP in practice and can be used to differentiate ONP from DED by eyecare practitioners, when accompanied with an anterior segment examination.

Background: Differentiating DED from ONP presents a significant opportunity to eyecare providers, allowing appropriate treatment choices for more adequate symptom control, greater patient satisfaction, and reduced emergent re-presentations.

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In this study we have assessed the clinical and genetic characteristics of an Irish Leber's hereditary optic neuropathy (LHON) cohort and assessed for useful biomarkers of visual prognosis. We carried out a retrospective review of clinical data of patients with genetically confirmed LHON presenting to an Irish tertiary referral ophthalmic hospital. LHON diagnosis was made on classic clinical signs with genetic confirmation.

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Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.

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Ocular surface melanoma (OSM) is rare. An 81-year-old Caucasian woman presented with a 4-month history of right eye pain and reduced vision. Histopathological examination of the excisional biopsy identified invasive amelanotic melanoma of the conjunctiva expressing Melan A and SOX10.

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Purpose: The purpose of this study was to assess an intellectual disability (ID) cohort with keratoconus (KC) regarding ophthalmic (visual acuity and corneal tomography) and systemic characteristics and to describe an appropriate clinical algorithm for investigation and management of KC in this setting.

Methods: This was the retrospective cohort study of patients with ID (Down syndrome, autism, and other) in the cornea department of a tertiary referral ophthalmic hospital in Dublin, Ireland. Retrospective chart review was conducted on people with ID undergoing examination under anesthesia or crosslinking under general anesthetic.

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Although rare, inherited retinal degenerations (IRDs) are the most common reason for blind registration in the working age population. They are highly genetically heterogeneous (>300 known genetic loci), and confirmation of a molecular diagnosis is a prerequisite for many therapeutic clinical trials and approved treatments. First-tier genetic testing of IRDs with panel-based next-generation sequencing (pNGS) has a diagnostic yield of ≈70-80%, leaving the remaining more challenging cases to be resolved by second-tier testing methods.

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