Case report: a case of diffuse unilateral subacute neuroretinitis (DUSN) in a child.

BACKGROUND: Diffuse unilateral subacute neuroretinitis (DUSN) is a rare cause of posterior uveitis in the United Kingdom. It typically presents unilaterally in children and young adults but rarely bilateral cases have been reported. It is also rare to have multiple worms in the same eye causing the clinical picture. In this article, we present a challenging case of DUSN in a young girl unresponsive to conventional treatments suggesting the possibility of multiple worms being present in the same eye. CASE PRESENTATION: An 8-year-old girl presented with a 2-month history of headaches. On occasions the headaches were associated with redness and watering of her left eye. She denied any visual loss or visual symptoms. Her visual acuity was reduced to 6/30 in her left eye. Fundal examination revealed a unilateral chorioretinitis. Investigation did not reveal a specific cause for the chorioretinitis. Over 15 months her visual acuity improved to 6/9 but the fundal appearance changed and a diagnosis of DUSN was made. She was treated with focal laser, systemic anti-helminthic and immunosuppressive treatments but continued to develop new, active areas of chorioretinitis, raising the possibility of multiple worms in the sub-retinal space. There is also a concern as to other central nervous system (CNS) involvement given her significant and ongoing headaches. CONCLUSION: We present a challenging case of DUSN in a young girl; a condition that remains rare in the UK. She was unresponsive to both focal laser and systemic anti-helminthic and immunosuppressive treatments suggesting the possibility of multiple worms being present in the sub-retinal space. This case highlights the difficulties often encountered in the treatment of DUSN, even when a worm can be identified. Her visual prognosis is poor as there was ongoing recurrence of active chorioretinitis.

A retrospective study of conjunctival lesions in the Paediatric Eye Clinic over 12 years.

BACKGROUND: Paediatric conjunctival lesions are rare and diverse. Though often indolent and asymptomatic, they can in some cases be sight or life-threatening. Awareness of concerning features of conjunctival lesions is key to optimal management. We aim to provide insight into management of paediatric conjunctival lesions though a review of cases in our service in last 12 years. METHODS: We present a retrospective analysis of our population-based cohort of children with conjunctival lesions presenting to our regional service in Belfast between 2011 and 2022 inclusive. We detail three rare cases of paediatric conjunctival lesions; a congenital intrascleral cyst leading to astigmatic amblyopia, a rapidly changing salmon-pink lesion confirmed as an embryonal rhabdomyosarcoma and an unusual presentation of a chronic granuloma arising from the caruncle. RESULTS: 85 conjunctival lesions were identified in <16 year olds giving a cumulative incidence of 27 cases per 100,000 population over 12 years. Mean age at presentation was 7 years old. Most common lesions were naevi (40%), limbal dermoids (21%), conjunctival melanosis (14%), conjunctival cysts (7%) and phlycten (6%). When seen at presentation 8% of cases were immediately listed for surgery, 28% were discharged and 64% entered a phase of observation. CONCLUSION: Paediatric conjunctival lesions have potential to cause visual manifestations, whilst some may undergo malignant transformation. Anterior segment photography is crucial in monitoring change and facilitating early discharge in the absence of sinister features. Malignant transformation must be considered in changing lesions which ought to have histological diagnosis obtained to prevent potentially sight and life-threatening conditions.

The Royal College of Paediatrics and Child Health Retinopathy of Prematurity Screening Guidelines (2022): a series of treated infants falling outside the updated criteria.

BACKGROUND/OBJECTIVES: Screening for retinopathy of prematurity (ROP) is a core healthcare intervention in premature babies to avoid preventable sight loss. A variety of screening criteria are in place globally for this purpose. The Royal College of Paediatrics and Child Health recently updated the United Kingdom ROP screening guidelines (March 2022). A key change was the reduction in the gestational age (GA) to warrant retinal screening (from 32 to 31 weeks). SUBJECTS/METHODS: In the course of informal national surveillance during guideline development (2017-2022) and soon after, babies under our care falling outside the updated screening criteria who underwent treatment for ROP were identified. A retrospective case review was carried out. RESULTS: Six babies were identified as having undergone screening and treatment, prior to implementation of the new guidance. Screening and treatment would have been forfeited as per the March 2022 guidelines. All six had numerous systemic risk factors for developing ROP. Specifically, all had documented poor postnatal weight gain. CONCLUSIONS: We present this case series to bring forth an urgent discussion amongst key stakeholders as to whether the new guidance, as it stands, is safe and fit for purpose.

Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.

We present an update on the ophthalmic status of a female patient with biotinidase deficiency who has attended our clinic for over 30 years. She is the only reported case of juvenile-onset glaucoma associated with biotinidase deficiency. Her intraocular pressure, optic nerve appearance, and visual field defect have, however, remained stable throughout her follow-up. We feel that this patient's visual field defect is a result of optic atrophy due to biotinidase deficiency in early life rather than glaucomatous damage.

Epidemiology and long-term outcomes of primary congenital glaucoma: a population-based study.

BACKGROUND/OBJECTIVES: to establish the incidence, prevalence and long-term outcomes of primary congenital glaucoma (PCG) in Northern Ireland's general and Irish Traveller (IT) populations over a 59-year period. SUBJECTS/METHODS: chart review of all PCG cases in Northern Ireland between 1962 and 2020. Incidence and prevalence were calculated with the aid of national population statistics. Long-term outcomes were analysed for eyes with at least 5 years follow up. Visual outcomes were stratified into groups: good-VA ≥ 6/12; moderate-VA 6/12 to 6/60, poor-VA < 6/60. Kaplan-Meier analysis was constructed to determine the probability of eyes retaining a good visual outcome over time. Outcomes of different surgeries were compared with regard to final vision, re-operations and complications. RESULTS: 57 PCG cases were identified between 1962 and 2020. Overall incidence was 3.4 per 100,000 live births. PCG prevalence in general and IT populations in 2019 was 4.3 per 100,000 and 238 per 100,000, respectively. Sixty eyes had sufficient data for long-term outcome analysis with a mean of 20.5 years follow up, 58% of which had good final visual outcome. Fifty-seven percent of eyes required multiple surgeries. Visual outcomes between trabeculectomies and tubes were comparable; however, there were more serious complications and reoperations associated with tubes. CONCLUSIONS: Incidence of PCG in NI is similar to Great-Britain and Ireland; however, PCG appears to be particularly prevalent within IT community. Although a good visual outcome can be achieved in the majority of patients, a subset of cases remain challenging to manage despite surgical advances.

Macular injuries secondary to handheld lasers in a paediatric population-clinical characteristics and indicators of visual impact.

BACKGROUND/OBJECTIVES: Aim to identify incidence and prevalence of laser-induced retinal injuries in the Northern Ireland paediatric population and to determine negative clinical and OCT indicators in relation to visual acuity. SUBJECTS/METHODS: A retrospective analysis was conducted of retinal injuries secondary to handheld laser pens over a 6-year time period with presenting and final visual acuity (VA), laser source and circumstances of the injury recorded. Fundus photographs and OCT images for each case were also collated. RESULTS: Sixty-five patients (74 eyes) were identified of which 72% were male and mean age was 11.6 years. 40% of patients were symptomatic. Mean presenting VA was 0.16 LogMAR. VA was ≤0.30 LogMAR in 20 eyes (27%) at presentation. Features which impacted VA to a significant level were foveolar location, diffuse morphology, ELM and BM/RPE/IDZ disruption and ORH presence on presenting OCT images. ORHs or ELM disruption resulted in a significant risk ratio of 3.5 (p = 0.002) and 3.4 (p = <0.001) respectively. Mean presenting VA was demonstrated to improve during follow-up from 0.36 to 0.22 LogMAR (n = 20, p = 0.03). When VA was ≤0.30 LogMAR at presentation, mean presenting VA improved from 0.56 to 0.29 LogMAR (p < 0.01) with 58% of eyes improving to a VA of better than 0.30 LogMAR. CONCLUSIONS: The overall visual loss from macular laser injuries was low and we have identified features on retinal imaging that significantly impact presenting VA. When VA is affected following macular laser injury there is evidence of recovery with >50% of those presenting with VA ≤ 0.30 LogMAR improving to better than 0.30 LogMAR.

Reaching a FEVR Pitch: A Case Series of Familial Exudative Vitreoretinopathy in Northern Ireland.

PURPOSE: To evaluate the heterogeneity of both the clinical features and genetics of familial exudative vitreoretinopathy (FEVR) in a Northern Irish population. METHODS: A retrospective trawl of a secure pediatric database was completed, as well as communication with all Northern Ireland ophthalmologists to identify adult cases. Cases were cross-referenced with a regional genetics database. Data on patient demographics, clinical findings, genetic testing, and patient treatment were collected. RESULTS: Sixteen patients were identified. Average age at presentation was 11.8 years (range: 4 months to 38 years). Earlier age at presentation was associated with more advanced disease and those presenting later had more subtle signs such as retinal tear or vitreous hemorrhage. Four types of gene mutations were identified in 7 patients (NDP, TSPAN12, FZD4, and KIF11). Thirteen patients had complications associated with FEVR and associated systemic conditions were found in 5 patients. Twelve eyes received active treatment to control disease. CONCLUSIONS: FEVR is a sight-threatening disease affecting prenatal retinal angiogenesis with a spectrum of disease and diverse genetic basis. Clinicians should look for signs of systemic and other ophthalmic sequelae in patients with FEVR because this could point to a genetic cause. Vigilance should also be exercised in older patients with unexplained vitreous hemorrhage or retinal tear with consideration of widefield angiography if FEVR is suspected. [J Pediatr Ophthalmol Strabismus. 2022;59(2):102-109.].

Atypical Horner's syndrome: frequency, features and aetiology in a paediatric population.

BACKGROUND/OBJECTIVES: Paediatric Horner's syndrome (HS) may present atypically with incomplete or intermittent clinical features, yet could represent sinister pathology including neuroblastoma. We aim to report the frequency and features with which atypical HS presents in our population (Northern Ireland) and to propose an investigation algorithm to aid diagnosis in these challenging cases. SUBJECTS/METHODS: Retrospective chart review of all paediatric anisocoria and HS cases presenting to Belfast, Northern Ireland, between 2012 and 2018, identified through searching our paediatric ophthalmology database. RESULTS: Sixty-one eligible cases of anisocoria or HS were analysed. Ten cases of HS were identified, four (40%) of which presented atypically with incomplete or intermittent features. Two of these four atypical cases were secondary to neuroblastoma. Overall incidence of paediatric HS in Northern Ireland during the study period was at least 2.54 per 100,000. CONCLUSIONS: Paediatric HS may present atypically in a significant number of cases. Accordingly, clinicians should consider HS in children with a history of anisocoria or ptosis and have a low threshold for use of pharmacological tests to aid diagnosis.

Post-streptococcal uveitis syndrome in a Caucasian population: a case series.

BACKGROUND/OBJECTIVES: Uveitis is an uncommon manifestation of post-streptococcal syndrome (PSUS). Despite reports, the condition is often not well recognised. The purpose of this study is to report a case series of children with post-streptococcal uveitis. SUBJECTS/METHODS: In this retrospective case series, all cases of PSUS were identified from all new paediatric patients diagnosed with uveitis over a 6-year period. Diagnosis of PSUS was based on the following diagnostic criteria: unilateral or bilateral uveitis with positive anti-streptolysin O titres (ASOT) or anti-deoxyribonuclease (anti-DNase) titres, and negative routine investigations for other causes of uveitis. RESULTS: Eleven Caucasian paediatric patients were diagnosed with PSUS. One had a novel finding of peripheral corneal endotheliopathy, 73% of patients presented in spring or winter months and 88% of eyes had a final VA of better than or equal to 6/12 at a mean follow-up of 22 months. Systemic immunosuppressant treatment was used in 36% of patients. Adalimumab was used in 18% of patient's refractory to other treatment. CONCLUSIONS: We report on the largest consecutive series of Caucasian patients under 16 years of age with PSUS. We have demonstrated a seasonal preponderance with presentation typically in winter or spring. We report a novel finding of corneal endotheliopathy in one of our PSUS patients. We also report on the benefit of adalimumab in the management of severe cases of PSUS; use of biologics in this particular cohort of uveitis patients has not previously been reported. With aggressive treatment our patients achieved good visual outcomes comparable to other published series.

Fundus fluorescein angiographic characterization of diffuse choroidal hemangiomas.

PURPOSE: To evaluate the clinical usefulness of fundus fluorescein angiography (FFA) in characterizing diffuse choroidal hemangiomas in Sturge-Weber syndrome. METHODS: A retrospective case review of children attending a university hospital clinic with a diagnosis of Sturge-Weber syndrome was undertaken. The FFA findings of seven patients who had undergone angiography were reviewed. RESULTS: FFA confirmed the presence of choroidal hemangioma in each of the seven cases and delineated the extent of the choroidal lesions. No adverse effects of fluorescein injection were encountered. CONCLUSIONS: FFA is effective in diagnosing and characterizing diffuse choroidal hemangiomas, and may be performed safely in children.

Pediatric Uveitis in a Well-Defined Population: Improved Outcomes with Immunosuppressive Therapy.

PURPOSE: The aim of this study is to assess the incidence, etiology, visual outcomes, and complication rates of pediatric uveitis patients at a dedicated multidisciplinary uveitis clinic in Northern Ireland. METHODS: Data were collected from charts of all patients attending the clinic at the Belfast Health and Social Care Trust between 2011 and 2015. Demographics, disease characteristics, treatments, visual acuity, and complications were recorded. RESULTS: There were 94 patients with uveitis onset before the age of 16 years. Etiology was mixed with JIAU the leading cause accounting for 48% of patients. Thirty-seven percent of patients had known complications at presentation and 65% by final visit. Systemic treatments were used in 65% of cases. Ninety-two percent of eyes had a final visual acuity ≥ 6/12 at a mean follow-up of 5 years. CONCLUSIONS: The etiology of uveitis in this pediatric population is mixed. With close monitoring, most patients maintain good vision.

Torpedo maculopathy: disease spectrum and associated choroidal neovascularisation in a paediatric population.

PURPOSE: Torpedo maculopathy is a rare lesion of the retinal pigment epithelium. This study set out to look at these lesions in the paediatric population and determine the spectrum and features of the disease. METHODS: The paediatric ophthalmology database was used to identify eight children with torpedo maculopathy between 2012 and 2017. Fundal images and optical coherence tomography (OCT) was used to analyse the cases. RESULTS: Eight patients with torpedo maculopathy were identified, making the prevalence approximately 2 per 100,000 population under 16 years old. The OCT images were classified using the previously described subtypes: Type 1 in patients 5 and 6 and Type 2 in patients 1, 2, 3, 4 and 8. The average age of presentation of Type 1 and Type 2 lesions was 8 and 7 years old respectively. We also report patient 8, who is the youngest reported case of choroidal neovascular membrane associated with torpedo maculopathy. Good anatomical response to a single injection of anti-Vegf was shown. CONCLUSIONS: This study is the first case series of torpedo maculopathy in the paediatric population. Contrary to previous reports of two distinct types of lesion on OCT representing different stages of the same disease, our case series indicates that Type 1 and Type 2 lesions are in fact different phenotypic entities both of which can occur at a young age. We also present the associated risk of choroidal neovascular membrane formation which is an important consideration for long term follow-up.

Effect of diode laser retinal ablative therapy for threshold retinopathy of prematurity on the visual field: results of goldmann perimetry at a mean age of 11 years.

PURPOSE: To assess the peripheral visual field in premature children who received diode laser photocoagulation for threshold retinopathy of prematurity (ROP) and in a comparison group with subthreshold ROP that had regressed spontaneously without laser treatment. PATIENTS AND METHODS: Eleven patients (18 eyes) were treated with laser, and nine patients (16 eyes) with subthreshold untreated ROP were recalled for assessment at a mean follow-up of 11 years. All children underwent Goldmann visual field testing using the II4e and V4e stimuli. Distance visual acuity measurement, dilated fundal examination, and cycloplegic autorefraction were also performed. RESULTS: The visual field extent in treated eyes was 3% to 4% smaller for the V4e target and 7% to 10% smaller for the II4e target than in the comparison eyes. For the II4e stimulus, the right eye visual field extent of the laser-treated children did not differ significantly from that of the untreated comparison group (P = .11), but the left eyes showed a borderline significant reduction (P = .046). For the larger V4e stimulus, no significant differences were noted (right eye, P = .41; left eye, P = .30). CONCLUSIONS: This is the first study to assess the effect of diode laser therapy on the peripheral visual field in eyes with threshold ROP using Goldmann perimetry. Laser-treated eyes showed a slight constriction of peripheral visual fields compared with untreated subthreshold eyes. It is uncertain whether this was due to the laser treatment itself or to the more severe ROP in the laser group. However, the limited reduction in visual field extent is comparable to that reported for cryotherapy and is unlikely to be of functional significance.

Long-term refractive and biometric outcomes following diode laser therapy for retinopathy of prematurity.

PURPOSE: To assess the long-term refractive and biometric outcomes of diode laser-treated eyes in threshold retinopathy of prematurity (ROP). METHODS: Cycloplegic autorefraction and biometry (Zeiss IOLMaster) were performed, at a mean follow-up of 11 years, on 16 laser-treated eyes with threshold ROP and 9 comparison eyes with subthreshold untreated ROP. RESULTS: The laser-treated eyes had a mean spherical equivalent of -2.33 D with a mean astigmatic error of 1.38 D. The comparison eyes had a mean spherical equivalent of +1.07 D with a mean astigmatic error of 0.42 D. This trend toward increased myopia in treated eyes did not achieve statistical significance (p=0.08). The myopia in the laser group appeared to be slowly progressive in nature when compared with earlier refractive data for these patients. The laser-treated eyes had reduced anterior chamber depth (ACD) compared with the subthreshold eyes (p=0.02). When physiologic accommodation was inhibited by cycloplegic drops, the anterior chamber deepened by 0.13 mm in the laser-treated eyes and by 0.06 mm in the comparison eyes. This effect of accommodation on ACD did not differ significantly between the two groups (p=0.23). The laser-treated eyes and the comparison eyes did not differ significantly in terms of axial length, corneal power, corneal diameter, or lens power. However, both groups had steeper corneas, shallower anterior chambers, and shorter axial lengths when compared with historical full-term controls. CONCLUSIONS: Myopia in premature infants requiring laser treatment for ROP is associated with a shallowing of the anterior chamber and a steepening of the cornea. Physiological accommodation is not impaired by laser therapy or by severe ROP.

Congenital Nasolacrimal Duct Obstruction: Comparison of Two Different Treatment Algorithms.

PURPOSE: To clarify the most appropriate treatment regimen for congenital nasolacrimal duct obstruction (CNLDO). METHODS: A retrospective observational analysis was performed of patients undergoing probing with or without intubation to treat CNLDO in a single institution (Royal Victoria Hospital, Belfast) from 2006 to 2011. RESULTS: Based on exclusion criteria, 246 eyes of 177 patients (aged 0 to 9.8 years with a mean age of 2.1 years) were included in this study: 187 (76%) eyes had successful outcome at first intervention with primary probing, whereas 56 (23%) eyes underwent secondary intervention. There were no significant differences by gender, age, or obstruction complexity between the successful and unsuccessful patients with first intervention. For those patients requiring secondary intervention, 16 of 24 (67%) eyes had successful probing, whereas 22 of 24 (92%) had successful intubation. Patients with intubation as a secondary procedure were significantly more likely to have a successful outcome (P = .037). Statistical analysis was performed using the Fisher's exact test and Barnard's exact test. CONCLUSIONS: Primary probing for CNLDO has a high success rate that is not adversely affected by increasing age. This study also indicates that if initial probing is unsuccessful, nasolacrimal intubation rather than repeat probing yields a significantly higher success rate. [J Pediatr Ophthalmol Strabismus. 2016;53(5):285-291.].

Hypoxia-induced responses by endothelial colony-forming cells are modulated by placental growth factor.

BACKGROUND: Endothelial colony-forming cells (ECFCs), also termed late outgrowth endothelial cells, are a well-defined circulating endothelial progenitor cell type with an established role in vascular repair. ECFCs have clear potential for cell therapy to treat ischaemic disease, although the precise mechanism(s) underlying their response to hypoxia remains ill-defined. METHODS: In this study, we isolated ECFCs from umbilical cord blood and cultured them on collagen. We defined the response of ECFCs to 1% O2 exposure at acute and chronic time points. RESULTS: In response to low oxygen, changes in ECFC cell shape, proliferation, size and cytoskeleton phenotype were detected. An increase in the number of senescent ECFCs also occurred as a result of long-term culture in 1% O2. Low oxygen exposure altered ECFC migration and tube formation in Matrigel®. Increases in angiogenic factors secreted from ECFCs exposed to hypoxia were also detected, in particular, after treatment with placental growth factor (PlGF). Exposure of cells to agents that stabilise hypoxia-inducible factors such as dimethyloxalylglycine (DMOG) also increased PlGF levels. Conditioned medium from both hypoxia-treated and DMOG-treated cells inhibited ECFC tube formation. This effect was reversed by the addition of PlGF neutralising antibody to the conditioned medium, confirming the direct role of PlGF in this effect. CONCLUSIONS: This study deepens our understanding of the response of ECFCs to hypoxia and also identifies a novel and important role for PlGF in regulating the vasculogenic potential of ECFCs.

Treatment of retinopathy of prematurity in Northern Ireland, 2000-2011: a population-based study.

PURPOSE: To evaluate the incidence of treatment-requiring retinopathy of prematurity (ROP) over a 12-year-period in Northern Ireland. METHODS: The medical records of all infants treated for ROP from January 2000 to December 2011 were retrospectively reviewed and cross-referenced with the Neonatal Intensive Care Outcomes Research and Evaluation (NICORE) database. RESULTS: The Northern Ireland population data showed an increase in the number of live births from 2000 to 2011. The proportion of babies born with a birth weight <1501 g and/or <32 weeks' gestational age remained constant (χ(2) trend = 3.220, P = 0.0727), although the proportion of these babies who died prior to 42 weeks' gestation decreased from 2000 to 2011 (P = 0.0196 using χ(2) for trend = 5.445; P = 0.0354 using χ(2) = 20.809). The prevalence of treatment-requiring ROP in these infants increased from 1.05% in 2000 to 5.78% in 2011 (P < 0.001 using χ(2) trend = 16.309; P < 0.001 using χ(2) = 31.378). CONCLUSIONS: The present population-based study highlights that the incidence of treatment- requiring ROP is increasing in Northern Ireland. The increasing number of infants requiring treatment will need to be taken into consideration in the commissioning process for ROP services in Northern Ireland.