An evaluation of the safety and effectiveness of telephone triage in prioritising patient visits to an ophthalmic emergency department - the impact of COVID-19.

BACKGROUND: During the COVID-19 crisis, a new nurse and doctor-led telephone triage model of care was evaluated as a method of prioritising essential visits to the ophthalmic accident and emergency department in the Royal Victoria Eye and Ear Hospital. This new method of service is known as "Telehealth" or "E-Health". AIMS: To assess the safety and efficacy of a Telehealth model of care ultilised during the COVID-19 pandemic. METHODS: A prospective study was undertaken in the Royal Victoria Eye and Ear Hospital where the telephone triage records were examined over a 28-day period during the COVID-19 pandemic from 19 March 2020 to 16 April 2020 inclusive. RESULTS: During this period, 1120 telephone calls were received by the call centre. A total of 739 patients attended the emergency department over the 28-day period compared to 2247 during the same period in 2019. CONCLUSION: To reduce risk of transmission, the COVID-19 pandemic has necessitated novel ways of interacting with patients and sharing healthcare information. Our new mode of service provision in the RVEEH portrays the effectiveness of Telehealth. This study gives us further scope to improve this model of care into the future.

Paediatric cataract in the uveitis setting.

BACKGROUND/AIMS: Cataract formation is common in uveitis and is visually more threatening in the paediatric cohort due to the risk of amblyopia. In addition, paediatric uveitis can often be difficult to manage. We report our experience with IOL placement in cataract surgery in the setting of paediatric uveitis. METHODS: This non-comparative, retrospective interventional case series examined our cases of paediatric cataract occurring in patients with uveitis from 2003 to 2016. Parameters examined included visual acuity (VA), underlying diagnosis, immunosuppression status, intra-operative complications and requirement for further surgery. RESULTS: In total, 10 eyes of seven patients were identified. The mean age at diagnosis of uveitis was 7.7 years (range 5.2-14 years) with onset of cataract at a mean of 29.3 months later (range 0-66 months). Three cases were bilateral and four cases were unilateral. Final visual outcomes were excellent with 80% showing improvement in VA achieving greater than 6/9.5 (p < 0.05). These patients had significant co-morbidities with concurrent glaucoma, band keratopathy and cystoid macular oedema. Uveitis was quiet for a minimum of 6 months in all cases prior to surgery with augmentation of immunosuppression pre-operatively as well as intra-operative local or intra-venous steroids. Tight post-operative care was necessary as 80% developed further flare-up of uveitis requiring increased immunosuppression and surgical interventions to manage their uveitis. CONCLUSION: Paediatric uveitis patients who develop cataract can have good visual outcomes with IOL insertion at the time of surgery when there is aggressive control of uveitis in the pre, peri and post-operative period.

Safety and Efficacy of Supratarsal Triamcinolone for Treatment of Vernal Keratoconjunctivitis in Ireland.

PURPOSE: To describe the clinical features, risk factors, and treatment outcomes after supratarsal injection of triamcinolone for vernal keratoconjunctivitis (VKC). METHODS: A retrospective review of all patients treated with supratarsal triamcinolone for VKC between February 2002 and May 2017 at the Royal Victoria Eye and Ear Hospital and Our Lady's Children Hospital Crumlin, Dublin, Ireland, was performed. RESULTS: Twenty-five patients, 46 eyes, and 145 injections were included for analysis. The mean age at first injection was 9.1 ± 5.7 years. Ninety-six percent of the patients were male. A seasonal variation was noted, with 59 injections (41%) of triamcinolone administered for acute and refractive cases of VKC in the summer compared with 35 (24%), 35 (24%), and 16 (11%) in the spring, autumn, and winter months, respectively. The most common presenting complaint was red eye, which was seen in all cases. Hay fever (64%) was the most common associated systemic disease. Each eye required, on average, 3.2 injections (range 1-9 injections), and the mean duration from the onset of symptoms to final treatment was 3.03 years (range 0-7.9 years). The mean presenting and final visual acuities were 0.33 and 0.11 logarithm of the minimum angle of resolution, respectively (P < 0.0001). During our study period, no patient experienced intraocular pressure rise requiring treatment, development of lenticular opacity, or ptosis after supratarsal injection of triamcinolone. CONCLUSIONS: In this case series, supratarsal triamcinolone was used in cases of VKC in which topical medications had failed to control the disease process. All patients reported improvement after treatment. There were no cases of intraocular pressure rise, lenticular opacity, or ptosis development after treatment.

Migration to aphakia and contact lens treatment is the trend in the management of unilateral congenital cataract in Britain and Ireland.

BACKGROUND: The Infant Aphakia Treatment Study (IATS) compared the treatment of unilateral cataract in infants aged 1-6 months with primary intraocular lens (IOL) implantation vs aphakia with contact lens (CL) correction. AIMS: This study aims to assess the current trends in the treatment of unilateral congenital cataract in infants less than 6 months at surgery in the UK and Ireland. METHODS: An anonymous survey was emailed to the 200 members of the BIPOSA mailing list with 14 questions to assess treatment choice (primary intraocular lens (IOL) vs aphakia with contact lens (CL)), reasons for this choice, and assessment of local CL services. RESULTS: There were 56 respondents, 39 of whom completed the entire survey. Aphakia with CL was the treatment choice for 74.4% of respondents. A quarter (25.6%) of respondents said they were performing primary IOL implantation prior to the publication of the Infant Aphakia Treatment Study (IATS), but now choose aphakia with CL. Amongst the 20.5% (n = 8) of respondents who chose primary IOL implantation, 5 attributed their choice to "inadequate CL service". The majority (84.6%) of respondents rated their infant CL service as either "good" or "very good". CONCLUSION: Aphakia with CL rehabilitation was the most common approach to the treatment of unilateral congenital cataract in infants less than 6 months in this study. The results of the IATS appear to have influenced a change in practice from primary IOL implantation to aphakia and CL visual rehabilitation in approximately one quarter of those surveyed.

Ophthalmic manifestations of vitamin A and D deficiency in two autistic teenagers: case reports and a review of the literature.

We describe the cases of 2 autistic children with ophthalmic and systemic manifestations of vitamin A deficiency due to food faddism. Although vitamin A deficiency is common in the developing world, reports in developed societies are rare. Our patients presented over a 1-year period. The patients were 14 and 13 years old at the time of presentation and were both found to have marked features of vitamin A deficiency related to unusual dietary habits. Anterior segment signs of xerophthalmia were present in both patients. In addition, patient 1 showed evidence of a rod-predominant retinopathy, which resolved with vitamin A supplementation. Due to its rare occurrence, hypovitaminosis A must be highlighted and anticipated in this cohort.

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.

We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative. Furthermore the siblings were tall and did not have the typical phenotype of nystagmus, photophobia, obesity or hearing loss and so the AS diagnosis was removed. We then sought to identify the causative gene in this family using whole exome sequencing. Unexpectedly, the exome analysis identified novel compound heterozygous ALMS1 mutations in exon 5 (c.777delT:p.D260fs*26) and exon 20 (c.12145_12146insC:p.S4049fs*36) that segregated with the phenotype. Although the siblings show some clinical overlap with AS, their phenotype is not classical. It is plausible that their atypical presentation may be due to the location of the ALMS1 mutations outside the usual mutational hotspots. Our findings show how atypical cases of AS may be missed under the current diagnostic guidelines and support consideration of complete ALMS1 sequencing in children with two or more features, even if all of the core clinical features of AS are not present.

Central corneal thickness and its relationship to intraocular pressure in mucopolysaccararidoses-1 following bone marrow transplantation.

PURPOSE: To examine the ocular findings in mucopolysaccaridoses-1 (MPS-1) and the relationship between intraocular pressure (IOP) and central corneal thickness following bone marrow transplantation. SETTING: clinical practice. SUBJECTS: 23 subjects with MPS-1 following bone marrow transplantation were examined. OBSERVATION PROCEDURES: age, sex, visual acuity, presence of strabismus, refractive error, fundus examination, intraocular pressure, and central corneal thickness were assessed for each individual. MAIN OUTCOME MEASURE: correlation of central corneal thickness with intraocular pressure. Only the right eye was used in correlations. RESULTS: Forty-six eyes of 23 subjects were examined. All subjects had been treated with successful bone marrow transplantation with mean follow-up of 8.5 years. Ages ranged from 17 months to 19 years (SD 5.03). Of the subjects, 60.8% were female; 85.5% were hyperopic; 8.6% had best-corrected visual acuity of >/=6/12; 34.5% had best-corrected visual acuity of <6/12 and >6/36 with 56.9% <6/36; 30% had strabismus. IOP ranged from 13 to 41 mm Hg with four children on antiglaucoma therapy. Central corneal thickness ranged from 484 microm to 705 microm and was moderately correlated with measured IOP in the right eye (r = 0.56). Corneal opacification moderately correlated with central corneal thickness (r = 0.57). Seventy percent had a normal disk evaluation; 30% had abnormal disk cupping. CONCLUSION: This is the first large case series of MPS-1 subjects demonstrating a correlation between measured IOP and central corneal thickness. All subjects had corneal opacification moderately correlating with corneal pachymetry.

Bilateral optic disk swelling in the 4q34 deletion syndrome.

Terminal deletion of chromosome 4q is a genetic abnormality associated predominantly with cardiac abnormalities, abnormal facial features, and developmental delay. A specific clinical clue to this infrequently diagnosed disorder is hypoplasia of the terminal phalanx of the fifth finger with an abnormal nail, occasionally extending onto the volar surface. Ocular manifestations of the disorder are uncommon, but anterior segment dysgenesis and glaucoma have been described with proximal deletions of chromosome 4 with phenotypes resembling Rieger's anomaly. We present a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling.

Characterization of optical coherence topography findings in Kenny-Caffey syndrome.

An unusual congenital syndrome was first reported in 1966 by Kenny and Linarelli, who described two patients with dwarfism, cortical thickening of the long bones, transient hypocalcemia, and normal intelligence,(1) the radiological features in the condition being reported by Caffey.(2) The constellation of dwarfism, medullary stenosis, transient hypocalcemia, and ophthalmologic abnormalities has been classically recognized as Kenny-Caffey syndrome with additional manifestations ranging from hypoplastic nails, persistent neutropenia, abnormal T-cell function, and neonatal liver disease.(3) Ocular findings range from uncomplicated nanophthalmos with hypermetropia to extreme pseudopapilloedema, vascular tortuosity, and macular crowding. Other reported ophthalmic findings include bilateral band keratopathy,(4) bilateral optic atrophy,(5) and myelinated nerve fibers.(6) We report two cases of Kenny-Caffey syndrome with an ellipsoid macular fold orientated horizontally involving the fovea and document this unusual feature with optical coherence topography (OCT).

Ocular complications of autoimmune polyendocrinopathy syndrome type 1.

PURPOSE: To report the ocular complications in a series of patients with autoimmune polyendocrinopathy syndrome, type 1 (APS1). METHODS: A retrospective study of 17 patients with APS1 syndrome treated at the department of ophthalmology, Our Lady's Hospital for Sick Children in Crumlin, Dublin, Ireland. All patients had clinical manifestations of the disease in keeping with the diagnostic criteria of APS1. Each patient had a comprehensive ophthalmic history taken and examination, including ocular symptoms, best-corrected visual acuity, slit-lamp biomicroscopy, tear film evaluation, and dilated ophthalmoscopic examination. RESULTS: Six of 17 patients (35%) had corneal changes. Two patients (12%) had severe keratoconjunctivitis requiring hospitalization and intensive topical steroids and lubricants. The inflammation resulted in visual acuity reduction in one patient secondary to central corneal scarring. Other ocular findings included reduced tear production, as tested with Schirmers tear strips (63%), lens opacities (18%), hypotrichosis (12%), hypertrichosis (5.9%), anisometropic amblyopia (5.9%), and myopia (5.9%). CONCLUSIONS: The most common and clinically important ocular manifestation of APS1 was keratoconjunctivitis associated with dry eye. This can result in progressive corneal scarring and vision loss.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.

OBJECTIVE: To determine the Irish prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), the AIRE mutations involved and clinical features of this population. METHODS: All patients were identified through paediatricians and endocrinologists in Ireland. Patients were invited to attend a multidisciplinary clinic. RESULTS: Thirty-one patients (2-56 years), 18 female, were identified from 19 families giving an Irish prevalence of 1:130,000. Twenty-six patients had hypoparathyroidism, 21 had adrenal insufficiency (AI) and 10 of 16 had ovarian failure. Three affected patients have died. Many with hypoparathyroidism were resistant to 1-alpha-vitamin D. Two needed daily PTH injections. Mineralocorticoid deficiency as the first manifestation of AI was common. Chronic intra-oral candidiasis affected 25 patients and three had leukoplakia. Two had keratoconjuntivitis. Of 22 with AIRE gene analysis, three different mutations were identified, one of which is novel. CONCLUSION: APECED is rare in Ireland. We saw a significant amount of non-endocrine disease but no ectodermal dystrophy. AIRE gene analysis reassured many siblings and identified individuals with APECED prior to any symptoms.

Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.

A distinct form of septo-optic dysplasia (SOD) comprises limb malformations in addition to the characteristic CNS and ocular abnormalities. To date, there have been 4 reports, citing 5 affected patients with this combined phenotype. We now add a further case and present neuroradiological images of the CNS findings in this condition. The striking consistency of the limb malformations and their overlap with the Streeter's band phenotype is emphasized.

Retinal hemorrhages in meningococcal septicemia.

PURPOSE: Meningococcal septicemia is associated with coagulopathy and hemorrhagic tendency. We carried out this study to determine the incidence of retinal hemorrhages in meningococcal septicemia. METHODS: This was a prospective study involving all children admitted to the Sheffield Children's Hospital, Sheffield, England, with a diagnosis of meningococcal septicemia. Confirmation of meningococcal infection was by blood culture or DNA analysis using polymerase chain reaction. The children underwent ocular examination including dilated fundus examination by direct and indirect ophthalmoscopy. Details of their coagulation status were also obtained. RESULTS: Twelve children (mean age, 4.5 years) with a confirmed diagnosis of meningococcal septicemia were included. All children had coagulopathy. Retinal hemorrhages were found in 5 children (42%). The disease was fatal in 3 children. Group C meningococcus was responsible for the infection in all those with retinal hemorrhages and those with fatal outcome. CONCLUSIONS: Retinal hemorrhage is a common feature in meningococcal septicemia. Ophthalmic evaluation should be part of the assessment of children with meningococcal septicemia. Future studies on meningococcal disease should include retinal hemorrhage as another parameter in the assessment. This should help us to understand the role of retinal hemorrhage in the prognosis of this serious disease.