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Background: Diabetes mellitus (DM) is one of the world's greatest health emergencies of the 21st century. Ocular complications of DM are commonly chronic and progressive, but vision loss can be effectively prevented or delayed with early detection and timely treatment. Therefore, regular comprehensive ophthalmologic examinations are mandatory. Ophthalmic screening and dedicated follow-up for adults with DM are well established, whereas, there is no consensus on optimal recommendations for the pediatric population, reflecting the lack of clarity about the current burden of disease in this age group. Objectives: To determine the epidemiology of ocular complications of diabetes and to assess optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) macular features in a pediatric population with DM. To review ophthalmological screening and follow-up plans for the diabetic pediatric population. Design: Observational study. Methods: Retrospective consecutive cohort study of all 165 diabetic patients (330 eyes) aged 0-18 years, examined between January 2006 and September 2018 at the Pediatric Department of 'S. Maria della Misericordia' Udine Hospital who underwent at least one complete ophthalmologic examination at the Ophthalmology University Clinic at the Udine Hospital. OCT and OCTA data were available for 37 patients (72 eyes, 2 excluded). The associations between ocular complications and selected potential risk factors were evaluated by univariate analyses. Results: No patient had signs of ocular diabetic complications or any macular morphological or micro-vascular impairment, regardless of any potential risk factor. The prevalence of strabismus and refractive errors in the study group, was found to be similar to non-diabetic pediatric populations. Conclusion: Screening and follow-up of ocular diabetic complications in children and adolescents could be performed less frequently than in adults with diabetes. There is no need to screen potentially treatable visual disorders in diabetic children earlier or more frequently than in the healthy children thus reducing time spent in hospital and permitting a better tolerance to medical examinations in diabetic pediatric patients. We described the OCT and OCTA patterns in a pediatric population with DM.
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We report the case of a 16-year-old girl with 1p36 deletion syndrome, who experienced visual loss in both eyes for 2 months because of lamellar cataracts. Mutations on some 1p36 genes in both experimental models and humans may be associated with cataract. This is the first detailed description of acquired juvenile-onset bilateral cataract with 1p36 deletion.
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Catarata , Trastornos de los Cromosomas , Adolescente , Catarata/congénito , Catarata/diagnóstico , Catarata/genética , Deleción Cromosómica , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 1 , Femenino , Humanos , MutaciónRESUMEN
AIM: To assess long-term anatomic and functional outcomes of early lens-sparing vitrectomy (LSV) for stage 4A retinopathy of prematurity (ROP) in infants with aggressive-posterior ROP (AP-ROP) which progressed to retinal detachment despite laser treatment. METHODS: Chart review of infants who underwent early 25-gage LSV for stage 4A ROP. Outcomes were anatomic success, mean visual acuity (VA), development of postoperative complications, and refractive changes. Follow-up examinations were performed at 1, 3, 6, 12, and then every 6 months. RESULTS: Ten eyes of seven preterm infants who underwent LSV were included. Mean follow-up was 36 ± 13.4 months and mean postmenstrual age (PMA) at last follow-up was 37 ± 13.7 months. Mean gestational age (GA) and weight at birth was 26 ± 1.4 weeks and 639 ± 180 g. Two eyes had vitreous hemorrhage 4 and 14 days after surgery, respectively. At last follow-up anatomic success was 100%, mean VA was 20/80 and eight eyes (80%) had high myopic refractive correction (mean spherical equivalent -11.25 D). CONCLUSION: Early LSV for stage 4A ROP with AP-ROP and progression to retinal detachment is efficacious in terms of anatomic and functional outcomes. Anatomic success is associated with visual improvement despite possible myopic refraction changes during follow-up.
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Desprendimiento de Retina , Retinopatía de la Prematuridad , Preescolar , Edad Gestacional , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Desprendimiento de Retina/cirugía , Retinopatía de la Prematuridad/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , VitrectomíaRESUMEN
We report the case of a 68-year-old immunocompetent patient with a dilatation of the ascending aorta, intraluminal vegetations, and pseudoaneurysmatic bulging who presented with unilateral fungal endogenous endophthalmitis 8 days after coronary angiogram. The isolated pathogen resulted to be Magnusiomyces capitatus, a filamentous, yeast-like fungus that can be commonly found in normal human microflora, with an immunosuppression-related pathogenicity. A literature research revealed a single case of ophthalmic infection - a keratitis - caused by this pathogen. Furthermore, we add a review of mycotic endophthalmitis related to aortic infection.
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BACKGROUND AND OBJECTIVES: Surgical indications in stages 4B and 5 retinopathy of prematurity (ROP) are not universally accepted. The authors' purpose is to evaluate the long-term anatomic and visual outcomes of vitrectomy for retinal detachment (RD) associated with stages 4B and 5 ROP. PATIENTS AND METHODS: Data of patients who consecutively underwent vitrectomy for stages 4B and 5 ROP from 1999 to 2013 were retrospectively reviewed and included grade of retinal attachment and visual acuity (VA) at the last follow-up. RESULTS: Seventy eyes of 38 infants were included: 23 with stage 4B and 47 with stage 5 ROP. Lens-sparing vitrectomy was performed in 11 eyes, combined lensectomy / vitrectomy in 59 eyes. Mean follow-up was 8.5 years. Anatomic success was maintained in 41 eyes (58.5%), and among them, VA greater than 5/200 was achieved in 17 eyes (41.4%). CONCLUSION: The long-term visual and anatomic success rates were encouraging for the surgical correction of RD associated with late stages ROP. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:208-214.].
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Predicción , Oftalmoscopía/métodos , Retina/diagnóstico por imagen , Retinopatía de la Prematuridad/cirugía , Agudeza Visual , Vitrectomía/métodos , Femenino , Estudios de Seguimiento , Edad Gestacional , Humanos , Recién Nacido , Masculino , Retinopatía de la Prematuridad/diagnóstico , Estudios Retrospectivos , Índice de Severidad de la EnfermedadRESUMEN
We report the case of a girl with a novel mutation of the COL4A gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve. COL4A1, located on chromosome 13, encodes the α1 chain of type IV collagen, a key component of the basement membrane in various organs, such as eye, brain, kidneys, and muscles. Different mutations have been described and may remain asymptomatic or determine porencephaly, cerebral hemorrhages, renal cysts, hematuria, and dysgenesis of the anterior segment of the eye.
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INTRODUCTION: We describe the youngest case of enhanced S-cone syndrome (ESCS) associated with choroidal neovascularization (CNV) successfully treated with intravitreal ranibizumab injections. CASE REPORT: A 5-year-old boy presented with round-shaped fibrotic subretinal lesions in both eyes with surrounding subretinal fluid and progressive visual deterioration in the right eye. Fine foci of increased autofluorescence were observed along the arcades in both eyes. Fluorescein angiography revealed the presence of CNV in his right eye, and treatment with ranibizumab was initiated, with significant improvement in vision. Subsequent electroretinogram examination and genetic studies of the patient and his two younger siblings confirmed the diagnosis of ESCS. CONCLUSION: CNV has been reported to occur in different inherited retinal degenerations, including ESCS. Our experience confirms that treatment with ranibizumab in patients with CNV-complicated ESCS can be potentially vision-saving.
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PURPOSE: To evaluate sensitivity, specificity and the safest cut-offs of three predictive algorithms (WINROP, ROPScore and CHOP ROP) for retinopathy of prematurity (ROP). METHODS: A retrospective study was conducted in three centres from 2012 to 2014; 445 preterms with gestational age (GA) ≤ 30 weeks and/or birthweight (BW) ≤ 1500 g, and additional unstable cases, were included. No-ROP, mild and type 1 ROP were categorized. The algorithms were analysed for infants with all parameters (GA, BW, weight gain, oxygen therapy, blood transfusion) needed for calculation (399 babies). RESULTS: Retinopathy of prematurity (ROP) was identified in both eyes in 116 patients (26.1%), and 44 (9.9%) had type 1 ROP. Gestational age and BW were significantly lower in ROP group compared with no-ROP subjects (GA: 26.7 ± 2.2 and 30.2 ± 1.9, respectively, p < 0.0001; BW: 839.8 ± 287.0 and 1288.1 ± 321.5 g, respectively, p = 0.0016). Customized alarms of ROPScore and CHOP ROP correctly identified all infants having any ROP or type 1 ROP. WINROP missed 19 cases of ROP, including three type 1 ROP. ROPScore and CHOP ROP provided the best performances with an area under the receiver operating characteristic curve for the detection of severe ROP of 0.93 (95% CI, 0.90-0.96, and 95% CI, 0.89-0.96, respectively), and WINROP obtained 0.83 (95% CI, 0.77-0.87). Median time from alarm to treatment was 11.1, 5.1 and 9.1 weeks, for WINROP, ROPScore and CHOP ROP, respectively. CONCLUSION: ROPScore and CHOP ROP showed 100% sensitivity to identify sight-threatening ROP. Predictive algorithms are a reliable tool for early identification of infants requiring referral to an ophthalmologist, for reorganizing resources and reducing stressful procedures to preterm babies.
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Algoritmos , Diagnóstico Precoz , Tamizaje Neonatal/métodos , Oftalmoscopía/métodos , Retina/diagnóstico por imagen , Retinopatía de la Prematuridad/diagnóstico , Femenino , Edad Gestacional , Humanos , Incidencia , Recién Nacido , Italia/epidemiología , Masculino , Curva ROC , Retinopatía de la Prematuridad/epidemiología , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Retinitis pigmentosa is a heterogeneous group of ocular diseases that causes progressive degeneration of the photoreceptor cells mainly affecting the rods of the peripheral retina. The association between retinitis pigmentosa and exudative retinopathy was first described in 1956 and has been called "Coats-like retinitis pigmentosa." Mutations in the Crumbs homolog 1 (CRB1) gene have been reported as a risk factor for developing Coats-like changes in patients with autosomal recessive retinitis pigmentosa. We report the case of a 15-year-old girl affected by CRB1 gene-negative retinitis pigmentosa and Coats-like exudative vasculopathy who was successfully treated with laser photocoagulation.
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Proteínas del Ojo/genética , Proteínas de la Membrana/genética , Proteínas del Tejido Nervioso/genética , Retinitis Pigmentosa/genética , Adolescente , Análisis Mutacional de ADN , Femenino , Humanos , Terapia por Luz de Baja Intensidad , Mutación , Retinitis Pigmentosa/terapia , Resultado del TratamientoRESUMEN
OBJECTIVE: The Photographic Screening for Retinopathy of Prematurity Study (Photo-ROP) sought to evaluate the utility of digital wide-angle photographic fundus screening for retinopathy of prematurity (ROP) as compared to bedside indirect ophthalmoscopy. This article describes the study design and presents baseline characteristics of the subjects. DESIGN: Prospective, multicenter, masked, Internet-based clinical trial. PARTICIPANTS: Premature infants <31 weeks postmenstrual age at birth and <1000 g birthweight. INTERVENTIONS: Examinations began at 31 weeks postmenstrual age or 4 weeks postnatal age, whichever was later. Both eyes of all infants were imaged with a panoramic fundus imaging system followed by indirect ophthalmoscopic fundus examination. Images were transmitted via Internet to the Reading Center for interpretation by masked graders. Clinical interpretations based on indirect ophthalmoscopy were recorded for comparison with the Reading Center determinations. Examinations were performed weekly for 10 weeks or until an infant was discharged from the hospital. MAIN OUTCOME MEASURE: Sensitivity, specificity, and positive and negative predictive values of Reading Center image interpretations were compared to clinical impressions based on bedside indirect ophthalmoscopy. RESULTS: Enrollment began in February 2001 and was completed in February 2002. The target number of infants was 50, and 62 were enrolled. Of those enrolled, 51 infants (102 eyes) were considered eligible, and are the subject of this article. Mean postmenstrual age (+/- SD) at time of delivery was 26.80 +/- 1.73 weeks (median = 26.86 weeks, interquartile range [IQR] = 2.43 weeks). Mean postmenstrual age at first examination (+/- SD) was 32.19 +/- 2.86 weeks (median = 31.71 weeks, IQR = 2.29 weeks). Mean birthweight (+/- SD) was 830.51 +/- 219.57 g (median = 817 g, IQR = 225 g). Female infants comprised 49.02% of the patients. Race distribution was as follows: white 45.10%, African or black 39.22%, Hispanic 3.92%, Asian 9.80%, and other races 1.96%. Mean follow-up (+/- SD) was 5.73 +/- 3.22 weeks (median = 6 weeks, IQR = 5, range = [1, 15]). CONCLUSIONS: The Photo-ROP Study Cooperative Group successfully recruited and enrolled at-risk premature infants into a longitudinal, prospective clinical trial comparing two different diagnostic approaches. Technology employed in this study is comparable to that currently available. Design issues for this trial included establishing the information technology infrastructure for an ROP study based on digital imaging, defining the study endpoints, estimating event rates, defining a standardized imaging protocol, and defining standards for interpretation of image quality and clinical findings.