RESUMEN
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.3460G>A, m.14484T>C and DNAJC30 c.152A>G variants, and their asymptomatic maternal carrier relatives for additional potential associations with vision loss. We assessed visual acuity, optical coherence tomography (OCT) of the peripapillary retinal nerve fibre layer (RNFL), visually evoked potential including P-100 latency, and full mitochondrial genome sequencing. Comparison was made with a reference standard for OCT; European Descent, Heidelberg Engineering ©; and electrophysiology measurements with in-house normative ranges. RNFL was thinned overall in LHON patients (n = 12); median global RNFL −54 µm in the right eye (RE) and −50 µm in the left eye (LE) versus normal, and was found to be normal overall in asymptomatic carriers at +1 µm RE and −2 µm LE (n = 16). In four asymptomatic carriers there was RNFL thinning found either unilaterally or bilaterally; these cases were associated with isolated delay in P-100 latency (25%), delay and reduced visual acuity (50%), or reduced visual acuity without P-100 latency delay (25%). Optic nerve dysfunction was associated with mitochondrial haplogroup H and HV, versus non-H haplogroups, in the asymptomatic carriers (Fisher's exact test, p = 0.05). Our findings suggest that optic nerve abnormalities may be identified in asymptomatic LHON mitochondrial mutation carriers, which may be associated with optic nerve dysfunction. For asymptomatic carriers these findings were associated with mitochondrial haplogroup H and HV.
Asunto(s)
Atrofia Óptica Hereditaria de Leber , Humanos , Atrofia Óptica Hereditaria de Leber/genética , ADN Mitocondrial/genética , Mitocondrias/genética , Retina , Mutación , Nervio Óptico , Trastornos de la VisiónRESUMEN
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). The software imageJ was used to measure perfusion by assessing vessel density (VD), and statistical software 'R' was used to analyse data. RESULTS: The LHON-affected group (n=12) had significantly reduced peripapillary VD (median 7.9%, p=0.046). Overall, the LHON asymptomatic relatives (n=16) had no significant change in peripapillary VD (p=0.166), though three eyes had VD which fell below the derived normal range at 6% each, with variable VA from normal to blindness; LogMAR median 0, range 0-2.4. In contrast, RNFL thickness was significantly reduced in the LHON-affected group (median 51 µm, p=0.003), and in asymptomatic relatives (median 90 µm, p=0.01), compared with controls (median 101 µm). RNFL thinning had greater specificity compared with reduced perfusion for optic nerve dysfunction in asymptomatic carriers (92% vs 66%). CONCLUSION: Overall, reduced peripapillary retinal nerve fibre layer perfusion was observed in those affected by LHON but was not reduced in their asymptomatic relatives, unlike RNFL thinning which was significantly reduced in both groups versus controls. The presence of RNFL changes was associated with signs of optic neuropathy in asymptomatic relatives.
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Atrofia Óptica Hereditaria de Leber , Humanos , Atrofia Óptica Hereditaria de Leber/diagnóstico , Células Ganglionares de la Retina , Nervio Óptico , Perfusión , Fibras NerviosasRESUMEN
PURPOSE: To evaluate socket outcomes of enucleation for uveal melanoma. METHODS: This study was a retrospective chart review conducted in December 2022 of all patients who underwent enucleation surgery for uveal melanoma between 2010 and 2015 in the Royal Victoria Eye and Ear Hospital, to evaluate socket outcomes including completion of revision surgery, type of surgery, and completion of multiple revision surgeries, and potential associations. RESULTS: Between June 2010 and December 2015, 72 patients underwent enucleation for uveal melanoma in the ocular oncology service, including 25 females and 47 males, mean age 65, range 11-91 years old. There were 68 primary enucleations and 4 secondary enucleations. Complete follow-up data was available for mean 4 years, range 1-11 years. Fourteen patients underwent further surgery, including one exenteration for local recurrence. Oculoplastic surgery (n = 6, 8%), implant exposure repair (n = 3, 6%), and orbit volume expanding surgery (n = 4, 6%) were also performed. Eight patients (11%) underwent one further surgery and five patients (7%) underwent a series of procedures. There was a significant association with younger age at enucleation (age <65) with undergoing further surgery (p = 0.03, Fisher's Exact Test (FET)), and also an association of younger age with undergoing multiple further surgeries (p = 0.02, FET). There was no association found with other predictor variables, including primary versus secondary enucleation status. Most patients (75%) with PESS underwent more than one surgery. CONCLUSION: Post enucleation surgery 82% of patients did not undergo further surgery, but younger patients were more likely to undergo anophthalmic socket revision or oculoplastic surgery. Management of post enucleation socket syndrome was challenging and usually involved a series of procedures.
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Enfermedades Orbitales , Implantes Orbitales , Masculino , Femenino , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Estudios Retrospectivos , Procedimientos Quirúrgicos Oftalmológicos , Enucleación del OjoRESUMEN
We present a case of bilateral interstitial keratitis leading to perforation in a woman with hidradenitis suppurativa (HS). A woman in her mid-20s with a history of HS and Grave's disease was referred to the corneal service with loss of vision and pain in both eyes since childhood. She was found to have circumferential thinning and steepening affecting her peripheral cornea bilaterally. Corrected distance visual acuity with spectacles was in the right eye 6/7.5, and in the left 6/30, with local thinnest area of 209 and 217 µm in the right and left eyes, respectively. She experienced recurring episodes of redness and irritation, and perforation occurred. The corneal perforation was managed with cyanoacrylate glueing, followed by a local conjunctival flap. Systemic immunosuppression with mycophenolate mofetil and adalimumab was commenced, with improvement after 18 months of treatment. Dermatologists and ophthalmologists should be aware of this association given its potential severity.
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Perforación Corneal , Hidradenitis Supurativa , Queratitis , Femenino , Humanos , Niño , Hidradenitis Supurativa/complicaciones , Queratitis/complicaciones , Queratitis/cirugía , Córnea/cirugía , Perforación Corneal/etiología , Perforación Corneal/terapia , AdalimumabRESUMEN
PURPOSE: Coronavirus Disease 2019 (COVID-19) pneumonia may predispose to thromboembolic disease, including after the acute phase. We report on a unique case of central retinal vein occlusion (CRVO) occurring eight months after diagnosis of Coronavirus Disease 2019 (COVID-19) pneumonia in a likely case of post-COVID-19 syndrome. CASE REPORT: A 42-year-old man developed blurred vision in his right eye eight months after symptoms of pneumonia. He had no underlying medical conditions, but experienced exertional chest pain since diagnosis of COVID-19 was confirmed by detection of SARS-CoV-2 on nasopharyngeal swab and was also seeing cardiology for management of myocarditis. His best-corrected visual acuity on snellen chart testing was reduced to 6/18 in the affected right eye, and dilated fundal examination revealed a non-ischaemic CRVO. CONCLUSION: The thromboembolic complications of COVID-19 may extend to CRVO, which in this case presented months after onset of symptoms of pneumonia, in association with myocarditis.
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COVID-19 , Miocarditis , Oclusión de la Vena Retiniana , Masculino , Humanos , Adulto , Oclusión de la Vena Retiniana/etiología , Oclusión de la Vena Retiniana/complicaciones , COVID-19/complicaciones , COVID-19/diagnóstico , SARS-CoV-2 , Miocarditis/complicaciones , Síndrome Post Agudo de COVID-19RESUMEN
BACKGROUND: One of the core aims of the European Union of Medical Specialists is to harmonize training across Europe by creating European Training Requirements for all medical specialties including Ophthalmology. The theoretical part is already defined by the EBO, however as ophthalmology also includes surgical skills, we herein propose a surgical minimum curriculum for ophthalmology residents in Europe. METHODS: National and international ophthalmic training curricula which are publicly available in English were reviewed and compared. The final proposal was created from 5 criteria: 1. Disease prevalence; 2. Patient safety; 3. Case-trainee ratio; 4. Skill transfer; and 5. Technical difficulty. RESULTS: In total 7 different training curricula from across the world were compared. Among the surgical procedures, cataract surgery has the highest median number of procedures required to be completed during residency: 86 procedures (50-350). Followed by oculoplastics: 28 procedures (10-40) and panretinal photocoagulation: 27.5 procedures (10-49) Full procedural competence is proposed in 9 surgical skills, including YAG laser posterior capsulotomy, retinal argon laser, intravitreal injection, corneal foreign body removal, removal of corneal sutures, facial and periocular laceration repair, eyelid laceration repair, minor eyelid procedures, and punctal occlusion. These procedures are deemed essential and feasible for all ophthalmology residents in Europe to perform independently upon completion of their training. CONCLUSION: This proposal should be regarded as a recommendation based on comparable surgical curricula in use worldwide to establish standards across European countries and may serve as valuable insight to those responsible for compiling ETRs for ophthalmology, or their national curriculums.
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Extracción de Catarata , Internado y Residencia , Laceraciones , Oftalmología , Humanos , Educación de Postgrado en Medicina/métodos , Curriculum , Oftalmología/educación , Extracción de Catarata/educación , Cuerpo Vítreo , Europa (Continente) , Competencia ClínicaRESUMEN
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.
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Lentes Intraoculares Fáquicas , Humanos , Iris , Implantación de Lentes Intraoculares , Complicaciones Posoperatorias , Estudios Retrospectivos , Agudeza VisualRESUMEN
PURPOSE: To investigate whether refractive error and vision problems in children are associated with increased sedentary behavior and reduced participation in physical activity and sport and, secondarily, to examine the relationship between vision problems and body mass index. METHODS: This was a cross-sectional study of the first wave of the Growing Up in Ireland (GUI) Study, a nationally representative study of children in Ireland. Data was collected between August 2007 and May 2008. Body mass index (BMI) was calculated at the time of the interview. The presence of a vision problem requiring treatment, including refractive error, was detected by report of the primary care giver, usually the mother. Association between vision problems and sedentary behavior, physical activity, and level of participation in sports was investigated in adjusted regression analysis. RESULTS: A total of 8,568 children (mean age, 9 ± 0.13 years; 4,024 [48.68%] males) were included. The presence of refractive error or a vision problem was reported for 1,000 (11.68%) children. The majority of children had normal weight, but 1,497 (17.5%) were overweight, and 446 (5.2%) were obese. A positive association between vision problems and sedentary behavior (P = 0.00089) and an inverse association with exercise (P = 0.01) were found. Overall, vision problems were not associated with BMI. CONCLUSIONS: In this study cohort, refractive error and vision problems were associated with increased sedentary behavior and decreased physical activity, although no causal relationship was established.
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Índice de Masa Corporal , Ejercicio Físico/fisiología , Obesidad Infantil/complicaciones , Errores de Refracción/epidemiología , Conducta Sedentaria , Trastornos de la Visión/epidemiología , Niño , Estudios Transversales , Femenino , Humanos , Incidencia , Irlanda/epidemiología , Masculino , Obesidad Infantil/epidemiología , Pronóstico , Errores de Refracción/etiología , Estudios Retrospectivos , Trastornos de la Visión/etiologíaRESUMEN
AIMS: We report on the incidence of cutaneous eyelid tumours in Ireland over the 11-year-period from 2005 to 2015, we identify associations between demographic factors and cutaneous eyelid tumour risk. METHODS: Skin cancers, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), melanoma, and other cancers, located on the eyelid or canthus according to ICD-10 coding, as registered by the National Cancer Registry of Ireland (NCRI), were captured from the period 2005 to 2015. Age standardised rates (ASR) were calculated according to the European Standard Population (2013). Longitudinal data analysis using linear regression, and associations with age and sex were evaluated with the statistics program R. RESULTS: There were 4824 patients diagnosed with eyelid BCC during the study period, the ASR in men and women was mean 15.87 and 13.49 per 100,00, respectively. The relative risk for eyelid BCC in men compared with women was 1.18, age was associated with incidence. There were 528 patients diagnosed with SCC; the ASR of eyelid SCC in men and women was 2.10 and 1.39 per 100,000, respectively, and increased in women annually (ß = 0.07, p = 0.0005). The relative risk for eyelid SCC in men compared with women was 1.51, and age was exponentially associated with SCC. Melanoma and other eyelid tumours were uncommon-50 and 55 cases, respectively. CONCLUSION: Incidence of both BCC and SCC increases with age and male sex. The incidence of eyelid SCC is increasing in women, and under age 50, eyelid BCC is more common in women than men. SYNOPSIS: We describe the recent incidence of eyelid cancers in Ireland, from National Cancer Registry Data. We find eyelid BCC, and also SCC, are associated with increased age. Rate of eyelid SCC is increasing in women.
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Carcinoma Basocelular/epidemiología , Carcinoma de Células Escamosas/epidemiología , Neoplasias de los Párpados/epidemiología , Melanoma/epidemiología , Neoplasias Cutáneas/epidemiología , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Incidencia , Irlanda/epidemiología , Masculino , Persona de Mediana Edad , Sistema de Registros/estadística & datos numéricos , Factores de RiesgoRESUMEN
The prism adaptation test (PAT) is a preoperative tool that may fine-tune surgical dosage and reduce under- and overcorrection in pediatric partially accommodative esotropia; however, it is resource intensive and the benefits are uncertain. PAT involves correction of esodeviation with prisms, with subsequent assessment for and quantification of change in angle of esodeviation, thereby augmenting the surgical target angle in a subset of patients. We evaluated PAT response and postoperative outcomes in a cohort of children who underwent bilateral medial rectus recession and found that 36% of patients showed a requirement for increase of prism dosage to retain orthotropia during PAT; these patients did better than those whose deviation was stable, with postoperative rate of motor success (defined as ≤10Δ esotropia) of 100% versus 56%. PAT may be a useful positive prognostic test, and it also identifies a substantial patient population who may avoid undercorrection, the prism builders. However, this cohort may do better postoperatively regardless of the target angle for surgery. Additional randomized studies are required to demonstrate definitive benefit of PAT. Identification of the builder phenotype prior to commencing adaptation may reduce the workload involved in the PAT technique.
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Adaptación Ocular/fisiología , Esotropía/cirugía , Movimientos Oculares/fisiología , Anteojos , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos/métodos , Visión Binocular/fisiología , Adolescente , Niño , Preescolar , Esotropía/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Músculos Oculomotores/fisiopatología , Estudios Retrospectivos , Factores de Tiempo , Resultado del TratamientoRESUMEN
OBJECTIVES: To examine the association between breast feeding outcomes and place of birth (home vs hospital birth). DESIGN: Population-based cross-sectional study. SETTING: Ireland and UK. PARTICIPANTS: 10â 604 mother-infant pairs from the Growing Up in Ireland study (GUI, 2008-2009) and 17â 521 pairs from the UK Millennium Cohort Study (UKMCS, 2001-2002) at low risk of delivery complications were included in the study. PRIMARY AND SECONDARY OUTCOME MEASURES: Breast feeding initiation, exclusivity and duration. RESULTS: Home birth was found to be significantly associated with breast feeding at all examined time points, including at birth, 8â weeks, 6â months and breast feeding exclusively at 6â months. In GUI, adjusted OR was 1.90 (95% CI 1.19 to 3.02), 1.78 (1.18 to 2.69), 1.85 (1.23 to 2.77) and 2.77 (1.78 to 4.33), respectively, and in UKMCS it was 2.49 (1.84 to 3.44), 2.49 (1.92 to 3.26), 2.90 (2.25 to 3.73) and 2.24 (1.14 to 4.03). CONCLUSIONS: Home birth was strongly associated with improved breast feeding outcomes in low-risk deliveries. While the association between home birth and breast feeding is unlikely to be directly causal, further research is needed to determine which factor(s) drive the observed differences, to facilitate development of perinatal care that supports breast feeding.