Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

PURPOSE: A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs). METHODS: Two hundred one unrelated children (0-5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK. The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. All participants underwent panel-based genetic testing. RESULTS: The diagnostic yield of genetic testing for the cohort was 64% (ranging from 39% to 91% depending on the condition). The test result led to altered management (including preventing additional investigations or resulting in the introduction of personalized surveillance measures) in 33% of probands (75% for ectopia lentis, 50% for cataracts, 33% for inherited retinal disorders, 7% for anterior segment dysgenesis, 3% for albinism). CONCLUSION: Genetic testing helped identify an etiological diagnosis in the majority of preschool children with IEDs. This prevented additional unnecessary testing and provided the opportunity for anticipatory guidance in significant subsets of patients.

Evaluation of the Manchester COVID-19 Urgent Eyecare Service (CUES).

INTRODUCTION: Pressure on capacity in ophthalmology alongside the coronavirus (COVID-19) pandemic led to the development of the COVID-19 Urgent Eyecare Service (CUES), allowing patients to receive a prompt ophthalmic consultation, including remotely. The aim of this study was to conduct a service evaluation of CUES in Manchester. METHODS: Data were collected both prospectively and retrospectively from both primary and secondary care over an 8-week period from June to August 2020. RESULTS: In primary care CUES in Greater Manchester (GM) 2461 patients were assessed, with a majority self-referring to the service (68.7%, n = 1844). 91.7% of cases initially screened for CUES were deemed eligible and given a telemedicine appointment in GM; 53.3% of these cases required face-to-face consultation. 14.3% of cases seen within in GM CUES (351 out of 2461) were provisionally referred to secondary care. Contemporaneously the main provider emergency eyecare department (EED) attendances were reduced by 37.7% per month between April and December 2020 inclusive, compared to the same months in 2019. Patients attending a CUES face-to-face assessment were more likely to have a diagnosis in agreement with secondary care, compared to patients referred in from telemedicine assessment only (P < 0.05). CONCLUSION: This evaluation of CUES demonstrates a high level of primary care activity alongside a sustained reduction in EED cases. The case-mix of patients seen within EED following referral appears to be of a less benign nature than those cases seen prior to the introduction of CUES.

Evolution of visual field loss over ten years in individuals taking vigabatrin.

PURPOSE: Vigabatrin-associated visual field loss (VAVFL) occurs in around 45% of exposed people. It is generally accepted that, once established, VAVFL is stable and does not progress with continued VGB use. Most studies have, however, only followed people for short periods. We assessed the evolution of VAVFL over a ten-year period of continued VGB use. METHODS: From a group of 201 vigabatrin-exposed individuals with epilepsy, fourteen individuals were identified who were currently taking vigabatrin. All individuals had at least ten years exposure to vigabatrin. Individuals underwent several visual field examinations using Goldmann perimetry between Test 1 (first recorded examination) and Test 2 (most recent examination). All visual field results were analysed and quantified retrospectively by one investigator. RESULTS: 174 visual fields from the fourteen participants were available. The average follow-up period was 128 months. The prevalence of VAVFL increased from 64% at Test 1 to 93% at Test 2. The visual field size was significantly smaller at Test 2 compared to Test 1. All subjects showed a trend for decreasing visual field size with increasing cumulative vigabatrin exposure, when all fields for an individual were taken into account. There was a high degree of variability in visual field size between successive test sessions. CONCLUSIONS: VAVFL progresses with continued vigabatrin exposure over a ten-year period. Progression may be slow and difficult to detect because of the high degree of variability in visual field size between successive test sessions. New techniques are needed to monitor the effects of vigabatrin retinotoxicity in people who continue vigabatrin therapy.

Challenges of managing sympathetic ophthalmia in a young child and the role of infliximab.

The authors report the difficult challenges and use of infliximab in the delayed presentation of a 2½-year-old boy with a penetrating eye injury from a small ballpoint pen that led to sympathetic ophthalmia.

Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen.

Adams-Oliver syndrome (AOS) (MIM 100300) was first described in 1945 as a condition of terminal transverse limb defects and aplasia cutis congenita. Since then, its clinical features have been found to be highly variable and include cardiac defects, abdominal wall defects, vascular malformations, brain abnormalities, and ocular anomalies. We report the case of a 3-year-old girl with AOS who was also found to have bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen. To the best of our knowledge, this is the first case of bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen to be reported in association with the AOS.

Congenital absence of optic chiasm: demonstration of an uncrossed visual pathway using monocular flash visual evoked potentials.

A 35 month old child was referred for electrophysiology testing with pendular nystagmus, corresponding head oscillations and reduced vision. Flash visual evoked potential (VEP) revealed large responses at the right occiput (but not the left occiput) from the right eye and similar large responses at only the left occiput from the left eye, indicating absent/deficient crossover at the chiasm. A magnetic resonance imaging (MRI) scan subsequently confirmed absence of the optic chiasm. There was no other evidence of midline brain defects. Her subsequent development to age 11 has been followed. The nystagmus has remained mainly horizontal but a torsional component was noted from age 5 years and described as see-saw at age 6 years. A small right esotropia was noted at 6 years and spectacles prescribed for low hypermetropic refractive error. Bilateral superior rectus recessions at age 7 years produced an improved head posture. Her visual acuity has remained stable at around 6/24 from age 4 years. No binocularity nor stereopsis has been demonstrated over subsequent visits.