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PURPOSE To demonstrate phenotypic discordance between a monozygotic twin pair, one of whom exhibited pigmented paravenous chorioretinal atrophy (PPCRA). METHODS A patient and his identical twin brother, attending Moorfields Eye Hospital, were reviewed. Clinical assessment included visual acuity and color vision testing, fundus imaging including autofluorescence, spectral-domain optical coherence tomography and static perimetry. In addition, the affected sibling underwent pattern and full field electroretinography (PERG and ERG) according to ISCEV standards. Zygosity testing was performed using short tandem repeat (STR) analysis. RESULTS The 48-year old proband was referred with abnormal visual fields and difficulty reading at near. Examination revealed 20/20 Snellen visual acuity bilaterally, normal colour vision and bilateral asymmetric outer retinal atrophy with intra-retinal pigment migration along the course of the retinal veins, consistent with PPCRA. The visual field defects were contiguous with the blind spot and mirrored the retinal involvement in both eyes. Pattern ERG showed mild macular dysfunction and full field ERG was within normal limits. Blood testing for common uveitic entities was non-contributory. The proband's twin brother's clinical assessment and retinal imaging showed no abnormality. Zygosity testing showed the twins to be identical for 24 short tandem repeat (STR) microsatellite markers, indicative of monozygosity. CONCLUSION Some cases of PPCRA, without an obvious inflammatory etiology, do not have a clear Mendelian inheritance pattern and may represent an acquired disorder.

Introduction Inherited retinal degenerations (IRD) are rare genetic disorders with > 300 known genetic loci, manifesting variably progressive visual dysfunction. IRDs were historically underserved due to lack of effective interventions. Many novel therapies will require accurate diagnosis (phenotype and genotype), thus an efficient and effective pathway for assessment and management is required. Methods Using surveys of existing practice patterns and advice from international experts, an all-Ireland IRD service (Target 5000) was designed. Detailed phenotyping was followed by next generation genetic sequencing in both a research and accredited laboratory. Unresolved pedigrees underwent further studies (whole gene/whole exome/whole genome sequencing). Novel variants were interrogated for pathogenicity (cascade screening, in silico analysis, functional studies). A multidisciplinary team (MDT; ophthalmologists, physicians, geneticists, genetic counsellors) reconciled phenotype with genotype. A bespoke care plan was created for each patient comprising supports, existing interventions, and novel therapies/clinical trials. Results and discussion Prior to Target 5000, a significant cohort of patients were not engaged with healthcare/support services due to lack of effective interventions. Pathogenic or likely pathogenic variants in IRD-associated genes were detected in 62.3%, with 11.6% having variants of unknown significance. The genotyping arm of Target 5000 allowed a 42.73% cost saving over independent testing, plus the value of MDT expertise/processing. Partial funding has transferred from charitable sources to government resources. Conclusion Target 5000 demonstrates efficacious and efficient clinical/genetic diagnosis, while discovering novel IRD-implicated genes/variants and investigating mechanisms of disease and avenues of intervention. This model could be used to develop similar IRD programmes in small/medium-sized nations.

Objective: To define the characteristics of solitary idiopathic choroiditis (SIC) in a consecutive series of patients and propose a nomenclature change to idiopathic scleroma. Materials and Methods: Electronic patient records were retrospectively interrogated to identify all patients diagnosed with SIC between 2002 and 2019 in a tertiary referral ophthalmic hospital in the United Kingdom. Results: Thirty-four eyes of 34 patients were found to have SIC. The mean age at diagnosis was 48 years (range 24–78) and 23 patients (68%) were female. All lesions were located posterior to the equator, most frequently in the inferotemporal quadrant (13 eyes, 38%). The lesions had a mean largest basal diameter of 1.2 ± 0.4 disc diameters (range 0.5–2) and their distance to the optic disc had a mean of 1.2 ± 0.9 disc diameters (range 0–3.3). All lesions were intrascleral on enhanced depth imaging optical coherence tomography, demonstrating a hypo-reflective zone within the sclera, with an underlying hyper-reflective zone in some cases. No lesion enlarged or developed features consistent with active inflammation after a median follow-up time of 0.9 years (range 0–16.8). Discussion/Conclusion: Optical coherence tomography shows SIC to be an intrascleral lesion. Furthermore, we found no evidence of any inflammatory component. A nomenclature change to idiopathic scleroma is appropriate to prevent unnecessary investigation.

Purpose To describe the clinical and electrophysiological features of adult-onset macular dystrophy, due to novel combinations of CDHR1 alleles, and compare the associated phenotypes with previous reports. Methods The clinical records of patients with macular dystrophy and biallelic variants in CDHR1 were reviewed. Data analysed included best corrected visual acuity (BCVA), fundus images: autofluorescence (AF) and optical coherence tomography (OCT); full field electroretinography (ERG) and pattern ERG (PERG). Results Seven patients from six pedigrees were ascertained. One patient was homozygous for a known synonymous variant p.(Pro261=), four were compound heterozygous for the p.(Pro261=) variant and a novel allele of CDHR1: p.(Gly188Ser), p.(Met1?), or p.(Val458Asp); one patient was compound heterozygous for two previously unreported variants: c.297+1G>T in trans with p.(Pro735Thr). The range of BCVA at the last clinic review was (6/5–6/60). Autofluorescence showed macular flecks of increased AF in mild cases and patches of reduced AF in severe cases. The OCT showed attenuation of the ellipsoid zone (EZ) in mild cases and loss of the EZ and the outer nuclear layer in severe cases; one patient had subfoveal hyporeflective region between the EZ and the retinal pigment epithelium. The full field ERG was normal or borderline subnormal in all cases, and the PERG was subnormal in mild cases or undetectable in severe cases. Conclusions This report corroborates previous observations that genotypes distinct from those causing pan-retinal dystrophy can cause a milder phenotype, predominantly affecting the macula, and expands the spectrum of these genotypes. The findings in this cohort suggest a potential macular susceptibility to mild perturbations of the photoreceptor cadherin.

Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain genetically unexplained following conventional genetic testing, we aimed to obtain a genetic diagnosis in an IRD cohort in which the genetic cause was not found using whole-exome sequencing or targeted capture sequencing. We performed whole-genome sequencing (WGS) to identify causative variants in 100 unresolved cases. After initial prioritization, we performed an in-depth interrogation of all noncoding and structural variants in genes when one candidate variant was detected. In addition, functional analysis of putative splice-altering variants was performed using in vitro splice assays. We identified the genetic cause of the disease in 24 patients. Causative coding variants were observed in genes such as ATXN7, CEP78, EYS, FAM161A, and HGSNAT. Gene disrupting structural variants were also detected in ATXN7, PRPF31, and RPGRIP1. In 14 monoallelic cases, we prioritized candidate noncanonical splice sites or deep-intronic variants that were predicted to disrupt the splicing process based on in silico analyses. Of these, seven cases were resolved as they carried pathogenic splice defects. WGS is a powerful tool to identify causative variants residing outside coding regions or heterozygous structural variants. This approach was most efficient in cases with a distinct clinical diagnosis. In addition, in vitro splice assays provide important evidence of the pathogenicity of rare variants.

Introduction: The objective of this systematic search and review was to investigate the role of optometrists in teleophthalmology and digital referral. We examine the implications of the optometric...

Background/aims: To evaluate the visual outcomes and indication for surgery in a series of patients who underwent explantation of a phakic intraocular lens (PIOL). Methods: A retrospective case series of patients who underwent PIOL explantation in our institution was performed. The indication for explantation and visual and refractive outcomes were examined. The method of explantation is described. Results: Twenty-two eyes of 16 patients underwent PIOL explantation with a mean time to explantation of 7 ± 3 years (range 3–11.4). The mean age at explantation was 50.3 ± 9.3 years. Sixteen Artisan PIOLs and six Artiflex PIOLs were explanted. The indications for explanation were cataract development (17/22), endothelial cell loss (4/22) and synechiae formation (1/22). All patients with cataract underwent a combined procedure with explantation and phacoemulsification and the placement of a posterior chamber IOL. Mean corrected vision after explantation was 0.22 ± 0.10 logMAR (range 0.1–0.3 logMAR). One patient with endothelial cell loss required a Descemet’s Stripping Endothelial Keratoplasty (DSEK). Conclusion: Removal of PIOLs was necessitated most frequently by cataract followed by endothelial cell loss. Both explantation alone and explantation with concurrent phacoemulsification are safe procedures with good visual outcomes and will become more frequent in the future as more patients with PIOLs reach cataractous age.

Purpose Accommodative spasm, which manifests as ciliary muscle spasm, convergent strabismus or miosis, is a recognised consequence of head trauma. In whiplash cases, cervical spine hyperextension poses a risk of contra-coup injury and brainstem trauma, and is known to affect the visual system. However, to date, no cases of accommodative spasm due to whiplash injury have been reported. Observations We present the case of a 34-year-old female who developed sudden onset blurred distance vision after a rear impact car crash, having previously been emmetropic. Her unaided distance visual acuity was 20/70 in the right eye and 20/20 in the left. Best-corrected visual acuity in the right eye was 20/20 with a correction that progressed from −1.75 to −3.50 DS over the 12 months following the accident. This patient's sudden unilateral myopia, with unilaterally increased amplitude of accommodation suggests pseudomyopia due to accommodative spasm. Magnetic resonance imaging showed no evidence of injury to her brain stem, frontal lobes or oculomotor nerve. The patient is now well adjusted with a −3.50DS corrective lens for the right eye. Conclusions and importance The accommodation reflex is susceptible to injury at the occipital lobe, frontal eye fields, Edinger-Westphal nuclei and oculomotor nerves. As such it should be examined in patients who present with visual disturbances following whiplash injury. It is important that such cases are identified at presentation, as early intervention can improve outcomes in accommodative spasm and reduce the long term psychological effects often associated with whiplash injuries.

Aim To evaluate the outcomes of the type-I and type-II Boston keratoprostheses in a single Irish centre. Methods A retrospective chart review of keratoprosthesis implantations carried out in our institution from November 2002 to March 2014 was performed. All procedures were performed by a single surgeon (WP). Results Thirty-four keratoprosthesis implantations were carried out in 31 patients with a mean follow-up of 42 +/- 31 months (range 2-110 months). Seventeen patients were female (54.8%) and 14 were male (45.2%). The majority of keratoprostheses implanted were type-I (31/34, 91.2%), and three were type-II (3/34, 8.8%). Twenty-nine patients (85.3%) had an improvement in distance best-corrected visual acuity (BCVA) from baseline. Fifty per cent (17/34) of patients had a best-ever BCVA of at least 6/12. Eighteen patients (64.3%) retained a BCVA of at least 6/60 at 1 year. Over the course of follow-up, six keratoprostheses were explanted from six eyes of five patients, one of which was a type-II keratoprosthesis. Twenty-six patients (76.5%) developed postoperative complications. Complications included retroprosthetic membrane (18 patients, 52.9%), an exacerbation or new diagnosis of glaucoma (6 patients, 17.6%), endophthalmitis (5 patients, 14.7%) and retinal detachment (2 patients, 5.9%). Conclusions These data demonstrate excellent visual acuity and retention outcomes in a cohort with a long follow-up period in a single centre. Complications remain a considerable source of morbidity. These outcomes provide further evidence for the long-term stability of type-I and type-II Boston keratoprostheses in the management of patients in whom a traditional graft is likely to fail.

Background/aims To report five cases of infectious keratitis following corneal inlay implantation for the surgical correction of presbyopia. Methods This was a retrospective, observational case series. Five eyes of five patients were identified consecutively in two emergency departments during a 1-year period, from November 2013 to November 2014. Patients’ demographics, clinical features, treatment and outcomes are described. Results There were four female patients and one male, aged 52–64 years. Three patients had the KAMRA inlay (AcuFocus) and two had the Flexivue Microlens inlay (Presbia Cooperatief U.A.) inserted for the treatment of presbyopia and they presented from 6 days to 4 months postoperatively. Presenting uncorrected vision ranged from 6/38 to counting fingers. One patient’s corneal scrapings were positive for a putatively causative organism, Corynebacterium pseudodiphtheriticum, and all patients responded to broad-spectrum fortified topical antibiotics. All patients lost vision with final uncorrected visual acuity ranging from 6/12 to 6/60 and bestcorrected vision ranging from 6/7.5 to 6/12. Two patients’ corneal inlays were explanted and three remained in situ at last follow-up. Conclusions Infectious keratitis can occur at an early or late stage following corneal inlay implantation. Final visual acuity can be limited by stromal scarring; in the cases where the infiltrate was small and off the visual axis at the time of presentation, the final visual acuity was better than those patients who presented with larger lesions affecting the visual axis. Though infection may necessitate removal of the inlay, early positive response to treatment may enable the inlay to be left in situ.

Heavy silicone oil tamponade is intended to be temporary, but may occasionally be indefinite in patients who refuse, or are deemed unsuitable for, further surgery. The aim of this study is to compare the outcomes of patients with temporary versus indefinite heavy silicone oil intraocular tamponade. This retrospective, comparative case series identified 75 patients who underwent heavy silicone oil instillation (Oxane HD) over a 6 year period (2006-2012) in one institution. Thirty-nine patients had temporary heavy oil tamponade and 36 patients had indefinite tamponade. The majority (68 %) of patients had a history of previous vitreoretinal surgery prior to oil instillation and 66.7 % had pre-existing proliferative vitreoretinopathy (PVR). The mean final logMAR best corrected visual acuity (BCVA) was significantly better in the temporary tamponade group (1.34 ± 0.66) than the indefinite tamponade group 1.82 ± 0.64 (p = 0.003). Ambulatory BCVA (≥ 4/200) was retained in 76.3 % of temporary tamponade patients versus 54.3 % of indefinite tamponade patients (p = 0.093). Successful retinal reattachment was significantly more likely in temporary tamponade patients (92.3 %) than indefinite tamponade patients (75 %; p = 0.04). Complications in the patients with indefinite heavy silicone oil tamponade included redetachment (38.9 %), corneal pathology (13.8 %), secondary glaucoma (11.1 %) and anterior segment emulsification (8.3 %).While temporary tamponade patients had better outcomes than those with indefinite tamponade, the majority of indefinite tamponade patients still retained ambulatory vision in the affected eye. Indefinite heavy silicone oil tamponade remains a viable option for those who cannot undergo removal of oil surgery.

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.

Objectives: Preoperative methicillin-resistant Staphylococcus aureus (MRSA) carriage is associated with higher rates of postoperative MRSA infection. Carriage can be eradicated but this requires delaying surgery, which presents a dilemma when the surgery is urgent. We analysed the incidence of preoperative MRSA carriage and the impact on postoperative outcomes in a cardiac surgery population. Patients and methods: Patientdatawerecollectedprospectivelyfrom2000to2007(n = 3789).MRSAscreeningisperformedat apreadmission clinicforelectivepatients and on admission to the hospital for all patients. Three groups of MRSA carriers were identified: patients who were identified as carriers at a preadmissionclinic(n = 22,group1),patientswhoseadmissionscreeningwaspositivebutwheretheresultwasreceivedpostoperatively(n = 103, group 2) and patients who acquired an MRSA infection or colonisation more than 48 h after admission (n = 60, group 3). Results: MRSA eradication measures prior to admission were successful in 21 of 22 in group 1 (95.4%). There were no MRSA infections in group 1. However, in group 2 there were 11patientswithan MRSAinfection(10%) eventhougheradicationmeasures werestartedonconfirmationof carriage.In group3,19 of the60 patientshadan MRSAinfection.Theintensivecare stayandmortalityweresignificantlygreateringroups2 and3 thaningroup1or compared with the overall patient population. However, groups 2 and 3 also had a significantly higher risk profile (European System for Cardiac Operative Risk Evaluation (EuroSCORE)). When matched with similar risk patients, patients in groups 2 and 3 had mortality outcomes that were consistent with matched risk patients. Conclusion: Patients who were MRSA carriers were older, more likely to have been on haemodialysis and to have been admitted from another hospital and underwent more complex surgical procedures. Carriage of MRSAwas associated with a very high rate of MRSA infection, particularly among patients with diabetes. This suggests that delaying surgery may be warranted in patients expected to require implantation of prosthetic material such as valves, especially with diabetes. However, the survival outcomes for MRSA carriers are determined by their EuroSCORE rather than their MRSA status. This suggests that urgent cardiac surgery should not be delayed in patients with MRSA carriage. # 2010 European Association for Cardio-Thoracic Surgery. Published by Elsevier B.V. All rights reserved.

Background The GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been implicated in stationary night-blindness in the past, but unlike other proteins in the same pathway, it has not previously been implicated in retinitis pigmentosa. Methods A panel of 182 retinopathy-associated genes was sequenced to locate disease-causing mutations in patients with inherited retinopathies. Results Sequencing revealed a novel homozygous truncating mutation in the GNAT1 gene in a patient with significant pigmentary disturbance and constriction of visual fields, a presentation consistent with retinitis pigmentosa. This is the first report of a patient homozygous for a complete loss-of-function GNAT1 mutation. The clinical data from this patient provide definitive evidence of retinitis pigmentosa with late onset in addition to the lifelong night-blindness that would be expected from a lack of transducin function. Conclusion These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously, with notable similarities to the phenotype of the Gnat1 knockout mouse.

Visual acuity (VA) is a measure of the visual system’s ability to resolve fine detail and is expressed using the logarithm of the minimal angle of resolution (logMAR), which depends on the angular size of critical detail in optotypes. Charts originally developed for the Early Treatment in Diabetic Retinopathy Study (ETDRS) and subsequently refined have become the gold standard in ophthalmology research and are based on the design principles of Bailey and Lovie; they have logarithmic scales, 5 optotypes per line, and geometric progression in letter size and spacing. The letter size on each line is 1.2589, or 0.1 log units, times bigger than those on the next line and optotypes are the 10 Sloan letters (C, D, H, K, N, O, R, S, V, and Z).

To describe the shared care and outcomes of patients with periocular skin tumours who underwent Mohs micrographic surgery (MMS) performed by dermatologists, followed by oculoplastic reconstruction undertaken by ophthalmologists at two teaching and one private hospital in Ireland. This was a retrospective chart review at the Royal Victoria Eye and Ear Hospital, St James Hospital and the Hermitage Clinic. One hundred and twenty seven patients had periocular Mohs surgery between November 2006 and January 2013 mainly indicated for basal cell carcinoma. The mean follow-up time was 2 years and to date there have been no local recurrences. MMS is available in Ireland and should be considered for patients with facial tumours in the ocular region.