RESUMO
Congenital corneal staphyloma is a rare congenital malformation with guarded visual potential. The cornea is opaque, markedly ectatic, and lined by uveal tissue with a variety of associated anterior segment abnormalities. In this case report, the detailed histopathology of this condition is highlighted with an unusual finding of the malformed lens. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e28-e32.].
Assuntos
Segmento Anterior do Olho , Córnea , Doenças da Córnea , Humanos , Lactente , Segmento Anterior do Olho/anormalidades , Segmento Anterior do Olho/diagnóstico por imagem , Córnea/patologia , Córnea/anormalidades , Doenças da Córnea/diagnóstico , Doenças da Córnea/congênito , Anormalidades do Olho/diagnósticoRESUMO
Purpose: Axenfeld-Rieger syndrome (ARS) is characterized by ocular anomalies including posterior embryotoxon, iridocorneal adhesions, corectopia/iris hypoplasia, and developmental glaucoma. Although anterior segment defects and glaucoma contribute to decreased visual acuity, the role of potential posterior segment abnormalities has not been explored. We used high-resolution retinal imaging to test the hypothesis that individuals with ARS have posterior segment pathology. Methods: Three individuals with FOXC1-ARS and 10 with PITX2-ARS completed slit-lamp and fundus photography, optical coherence tomography (OCT), OCT angiography, and adaptive optics scanning light ophthalmoscopy (AOSLO). Quantitative metrics were compared to previously published values for individuals with normal vision. Results: All individuals demonstrated typical anterior segment phenotypes. Average ganglion cell and inner plexiform layer thickness was lower in PITX2-ARS, consistent with the glaucoma history in this group. A novel phenotype of foveal hypoplasia was noted in 40% of individuals with PITX2-ARS (but none with FOXC1-ARS). Moreover, the depth and volume of the foveal pit were significantly lower in PITX2-ARS compared to normal controls, even excluding individuals with foveal hypoplasia. Analysis of known foveal hypoplasia genes failed to identify an alternative explanation. Foveal cone density was decreased in one individual with foveal hypoplasia and normal in six without foveal hypoplasia. Two individuals (one from each group) demonstrated non-foveal retinal irregularities with regions of photoreceptor anomalies on OCT and AOSLO. Conclusions: These findings implicate PITX2 in the development of the posterior segment, particularly the fovea, in humans. The identified posterior segment phenotypes may contribute to visual acuity deficits in individuals with PITX2-ARS.
Assuntos
Segmento Anterior do Olho/anormalidades , Doenças da Córnea , Anormalidades do Olho , Oftalmopatias Hereditárias , Glaucoma , Humanos , Retina , Anormalidades do Olho/diagnóstico por imagem , Anormalidades do Olho/genética , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Glaucoma/diagnóstico , Glaucoma/genéticaRESUMO
Strabismus, the condition of misaligned eyes, can result in severe, long-lasting functional and psychosocial sequelae. This review examines existing literature that has described and quantified the psychosocial consequences of strabismus. In particular, the role of strabismus in creating social, psychological, and vocational disparities, and how these intersect with race, ethnicity, and gender, is described. The reviewed data suggest that negative perceptions of strabismus are formed early in life. Overall, exotropia is more easily noticed than esotropia. Esotropia is perceived more negatively than exotropia, and there is significant variation with respect to gender, racial, and ethnic groups. The data demonstrate that the presence of strabismus affects self-esteem, interpersonal relationships, and access to vocational opportunities. Surgical correction of strabismus has been shown to provide significant and long-lasting improvements in psychosocial well-being.
Assuntos
Esotropia , Exotropia , Anormalidades do Olho , Estrabismo , Humanos , Esotropia/cirurgia , Exotropia/cirurgia , Estrabismo/psicologiaRESUMO
This article uses a large corpus of previously understudied documents-i.e., appointment edicts of medieval China-to reveal how real-time negotiation between the imperial court and its provincial officials gave rise to two sophisticated theories of political reciprocity that impose limits on the sovereign. The first, well-studied in existent scholarship, claimed that the ruler was obliged to appoint worthy officials to promote the well-being of the commoners. The second, which this article excavates, stated instead that the ruler, while enjoying the services of the employed officials, was obliged to repay the services properly, sometimes even at the cost of commoners.
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Anormalidades do Olho , China , Existencialismo , Bolsas de Estudo , HumanosRESUMO
PURPOSE: To assess the perinatal risk factors, clinical characteristics, and microbial profile in congenital nasolacrimal duct obstruction (CNLDO). METHODS: A prospective observational study was conducted in pediatric patients of age <5 years. After a thorough clinical evaluation, the diagnosis of the CNLDO was confirmed by a Jones dye test or fluorescein dye disappearance test. A microbiological culture of lacrimal sac resurge was done with a sterile swab stick without touching the lid margins. Antibiotic susceptibility was then performed for the standard antibiotics. RESULTS: Seventy-one eyes of 52 children were included in the study. The mean age was 3.4 months. Our research found an equal number of cases born via spontaneous vaginal delivery and Caesarean section. Nine children (17.3%) had associated systemic and ocular anomalies. The number of cultures that were positive for any growth was 19 (27%). The most common isolate was Streptococcus pneumoniae which constituted eight cases (42%), followed by Pseudomonas aeruginosa (15.8%), and Escherichia coli (10.5%). Other organisms that grew were Klebsiella pneumoniae, Staphylococcus aureus, Staphylococcus epidermidis and nonfermenting gram-negative bacilli. Gram-positive organisms were susceptible to ciprofloxacin, amoxiclav, and oxacillin, and most of them were resistant to erythromycin. In comparison, gram-negative organisms showed 62.5% resistance and 37.5% susceptibility to ciprofloxacin. CONCLUSIONS: CNLDO was more commonly unilateral, in male, preterm, and normal birth weight infants. Bilateral CNLDO was more commonly associated with coexisting ocular or systemic anomalies. Prematurity, delivery by Caesarean section, and presence of congenital anomalies were associated with a prolonged course. S. pneumoniae was the predominant isolate in our patient population.
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Dacriocistorinostomia , Anormalidades do Olho , Obstrução dos Ductos Lacrimais , Ducto Nasolacrimal , Cesárea , Criança , Pré-Escolar , Ciprofloxacina , Feminino , Humanos , Lactente , Recém-Nascido , Obstrução dos Ductos Lacrimais/diagnóstico , Obstrução dos Ductos Lacrimais/epidemiologia , Masculino , Gravidez , Estudos Retrospectivos , Fatores de Risco , Centros de Atenção TerciáriaRESUMO
BACKGROUND: In 2016, Zika virus (ZIKV) was recognized as a human teratogen. North Carolina (NC) had no local transmission of ZIKV but infants with relevant birth defects, including severe brain anomalies, microcephaly, and eye abnormalities, require specialized care and services, the costs of which have not yet been quantified. The objective of this study is to examine NC Medicaid healthcare expenditures for infants with defects potentially related to ZIKV compared to infants with no reported defects. METHODS: Data sources for this retrospective cohort study include NC birth certificates, Birth Defects Monitoring Program data, and Medicaid enrollment and paid claims files. Infants with relevant defects were identified and expenditure ratios were calculated to compare distributions of estimated expenditures during the first year of life for infants with relevant defects and infants with no reported defects. RESULTS: This analysis included 551 infants with relevant defects and 365,318 infants with no reported defects born 2011-2016. Mean total expenditure per infant with defects was $69,244 (median $30,544) for the first year. The ratio of these expenditures relative to infants with no reported defects was 14.5. Expenditures for infants with select brain anomalies were greater than those for infants with select eye abnormalities only. CONCLUSIONS: Infants with defects potentially related to ZIKV had substantially higher Medicaid expenditures than infants with no reported defects. These results may be informative in the event of a future outbreak and are a resource for program planning related to care for infants in NC.
Assuntos
Anormalidades do Olho , Complicações Infecciosas na Gravidez , Infecção por Zika virus , Zika virus , Atenção à Saúde , Feminino , Gastos em Saúde , Humanos , Lactente , Medicaid , North Carolina/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Estudos Retrospectivos , Estados Unidos/epidemiologia , Infecção por Zika virus/epidemiologiaRESUMO
Infantile hemangioma (IH) is the most common pediatric vascular tumor. Its pathogenesis is poorly understood but thought to represent an aberrant response of pluripotent stem cells to stimuli such as hypoxia and the renin-angiotensin system. IH usually appears during the first few weeks of life and follows a characteristic natural trajectory of proliferation and involution. Their clinical appearance depends on their depth and distribution. Classification comprises superficial, mixed, and deep IH as well as IH with minimal or arrested growth. Multifocal IHs are more likely to be associated with infantile hepatic hemangioma and, although the need for screening based on a specific number of IH has been recently debated, 5 remains the most widely acceptable cutoff point. Large facial IHs warrant investigation for posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects or aortic coarctation and eye anomalies (PHACE) syndrome. Lumbar IHs warrant investigation for lower body IH and other cutaneous defects, urogenital anomalies, ulceration, myelopathy, bony deformity, anorectal malformations, arterial anomalies, and renal anomalies (LUMBAR) syndrome. Complications of IH include ulceration, obstruction or functional impairment, hypothyroidism, and cosmetic sequelae. Differential diagnoses mostly consist of other vascular tumors and vascular malformations, although IH may sometimes mimic nonvascular tumors or developmental anomalies. Diagnosis is usually clinical and biopsy is rarely indicated. High-frequency ultrasonography may help with the differential diagnosis, particularly with subcutaneous lesions. Referral to other specialists may be required in specific cases.
Assuntos
Coartação Aórtica , Anormalidades do Olho , Hemangioma Capilar , Hemangioma , Síndromes Neurocutâneas , Criança , Hemangioma/diagnóstico , Hemangioma/epidemiologia , Humanos , LactenteRESUMO
PURPOSE: To determine if the stress of normal eye movements results in gaze-induced globe deformations, vitreous chamber axial length and vitreous chamber axial volume (VCAV) change in highly myopic eyes. METHODS: A prospective imaging study was performed on 82 eyes of 43 patients with high myopia (>27 mm of axial length) with a clinical diagnosis of staphyloma. Three-dimensional MRI scans were acquired while subjects gazed in five directions (primary, nasal, temporal, superior and inferior). Surface renderings were generated, and a processing pipeline was created to automate alignment of the eye and to measure VCAV within 5.5 mm of the visual axis for each eye in every gaze. The degree of gaze-induced globe deformation was determined by calculating the Dice coefficient to assess the degree of overlap of the sclera at each eccentric gaze with that found in primary gaze. Each eccentric gaze VCAV was compared to VCAV in primary gaze using a fixed-effects regression allowing for subject-specific and eye-specific effects. RESULTS: The Dice coefficient showed significant gaze-induced eye shape changes in all gazes (all p<0.0001). There were no statistically significant gaze-induced VCAV changes when comparing primary gaze to nasal, temporal or upgaze. However, when changing from primary to downgaze, VCAV was increased by +4.79 mm3 (p=0.002, 95% CI 1.71 to 7.86). CONCLUSION: Significant gaze-induced globe deformation was noted in all gazes, but a reversible, instantaneous VCAV increase occurred only in downgaze, which is consistent with studies supporting the association of environmental factors such as near work with myopia development and progression.
Assuntos
Anormalidades do Olho/etiologia , Oftalmopatias/etiologia , Fixação Ocular , Miopia Degenerativa/complicações , Corpo Vítreo/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Comprimento Axial do Olho/patologia , Dilatação Patológica , Anormalidades do Olho/diagnóstico por imagem , Oftalmopatias/diagnóstico por imagem , Feminino , Humanos , Imageamento Tridimensional , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Miopia Degenerativa/diagnóstico por imagem , Estudos Prospectivos , Corpo Vítreo/diagnóstico por imagemRESUMO
PURPOSE: To estimate the financial impact of coronavirus disease 2019 (COVID-19)-related shutdowns on ophthalmic surgery performed at hospital outpatient departments (HOPDs) in the United States. SETTING: Nationally representative sample of U.S. hospital payment and cost data. DESIGN: Retrospective review and economic impact analysis. METHODS: The Nationwide Ambulatory Surgery Sample (NASS) was used to identify ophthalmic surgical procedures and associated charges, which were performed at HOPDs. The highest volume elective ophthalmic procedures were identified. The total hospital cost and payment amount was calculated for each procedure using the Hospital Outpatient Prospective Payment System (OPPS) maintained by the Centers for Medicare & Medicaid Services. Net facility income (estimated payments less OPPS rates) was determined for each elective surgical procedure category and stratified by hospital teaching status. RESULTS: In 2017, elective cataract, strabismus, and keratoplasty surgeries were performed 1 230 992 times at HOPDs. The total cost of these elective surgeries was 2350 million U.S. dollars (USD), with a total hospital payment of 3624 to 3786 million USD. This led to an estimated net income of 1278 to 1440 million USD overall to U.S. hospitals in the NASS dataset from elective ophthalmic surgery (approximately 107 to 120 million USD per month), with a larger proportion performed in teaching hospitals. CONCLUSIONS: The cessation of elective ophthalmic surgeries at HOPDs during COVID-19 resulted in a significant loss of income for hospitals in the United States and teaching experiences for trainees at academic medical centers.
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COVID-19 , Procedimentos Cirúrgicos Eletivos/estatística & dados numéricos , Anormalidades do Olho/cirurgia , Pandemias , Idoso , Hospitais , Humanos , Medicare , Estudos Retrospectivos , Estados Unidos/epidemiologiaRESUMO
INTRODUCTION: Joubert syndrome (JS) is an autosomal recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including congenital retinal dystrophy. The function of different retinal elements (rod, cone, bipolar cells) can be objectively evaluated by electroretinogram (ERG) recordings. Our work aims to evaluate the retinal function (by ERG recordings) in patients with JS with or without congenital retinal dystrophy. In addition, since clinical trials should be performed in the near future in JS, our results could provide information about the possible usefulness of ERG recordings in the assessment of the efficacy of treatments targeted to improve the retinal involvement. METHODS: In this observational and prospective study, 24 children with genetic identification for JS (mean age 10.75 ± 6.59 years) and 25 healthy age-similar normal control subjects (control group, mean age 10.55 ± 3.76 years) were enrolled. On the basis of the presence/absence of retinal dystrophy at fundus examination, patients with JS were divided into two groups: patients with JS with retinal dystrophy (16 children, mean age 11.00 ± 6.74 years, providing 16 eyes; JS-RD group) and patients with JS without retinal dystrophy (8 children, mean age 10.50 ± 6.45 years, providing 8 eyes; JS-NRD group). In patients with JS and controls, visual acuity (VA), dark-adapted, light-adapted, and 30-Hz flicker ERGs were performed according to International Society for Clinical Electrophysiology of Vision (ISCEV) standard protocols. RESULTS: When compared to controls, patients in the JS-RD and JS-NRD groups showed significant abnormalities of the values of dark-adapted, light-adapted, and 30-Hz flicker ERG parameters. The ERG and VA changes were not significantly correlated. CONCLUSIONS: Our results suggest that a dysfunction of photoreceptors and bipolar cells occurs in patients with JS with or without retinal dystrophy. The retinal impairment can be detected by ERG recordings and this method should be proposed to evaluate the effectiveness of adequate treatment targeted to improve the retinal impairment in patients with JS.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Cerebelo/anormalidades , Eletrorretinografia/métodos , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/fisiopatologia , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/fisiopatologia , Retina/anormalidades , Retina/fisiopatologia , Acuidade Visual/fisiologia , Adolescente , Cerebelo/fisiopatologia , Criança , Pré-Escolar , Feminino , Voluntários Saudáveis , Humanos , Itália , Masculino , Estudos ProspectivosRESUMO
INTRODUCTION: Treatment of congenital ptosis is exclusively surgical; the frontalis sling method is most appropriate when the ptosis is severe, with no upper eyelid levator function. This surgery typically utilizes various materials (autologous fascia lata, silicone, nylon, or polypropylene bands, etc.). MATERIALS AND METHODS: This was a retrospective descriptive study of 22 children under 16 years of age, treated for congenital ptosis by frontalis suspension of the levator muscle of the upper eyelid using the polypropylene technique, between January 1, 2014 and June 30, 2017 at the African Institute of Tropical Ophthalmology teaching hospital. RESULTS: In our study, the surgical result (prior to correction of recurrences) was satisfactory in 81.82 % of cases, with a recurrence rate of 13.64 %. The mean follow-up was 14 months, ranging from 4 to 25 months. DISCUSSION: The use of polypropylene provides encouraging results in ptosis surgery, while also offering the advantage of being low cost and more available. Its use in developing countries deserves special attention.
Assuntos
Blefaroplastia , Blefaroptose/congênito , Blefaroptose/terapia , Anormalidades do Olho/terapia , Polipropilenos/química , Próteses e Implantes , Academias e Institutos , Adolescente , África/epidemiologia , Blefaroplastia/economia , Blefaroplastia/instrumentação , Blefaroplastia/métodos , Blefaroptose/economia , Blefaroptose/epidemiologia , Criança , Pré-Escolar , Países em Desenvolvimento/economia , Anormalidades do Olho/economia , Anormalidades do Olho/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Músculos Oculomotores/cirurgia , Oftalmologia/economia , Oftalmologia/instrumentação , Oftalmologia/métodos , Pobreza/estatística & dados numéricos , Próteses e Implantes/economia , Estudos RetrospectivosRESUMO
Purpose: To investigate the coexistence of cilioretinal arteries (CRAs) with optic disc pit (ODP), and to delineate the characteristics of CRAs related to their number, location of their emergence and their association with the size of ODP. Methods: 47 patients (49 eyes) with ODP were diagnosed and followed-up between 1997 and 2017, using slit-lamp biomicroscopy, color fundus photographs, fluorescein angiography and indocyanine green angiography. The presence of CRAs was recorded in association with the size of the ODP, along with their number and location of emergence. The fellow normal eyes of patients were also analyzed. Results: 42 out of 49 eyes with ODP (85.7%) presented CRAs. In 35 out of 42 eyes (83.3%) CRAs emerged from the pit, either from bottom or from its margin. In 7.1% of cases, CRAs were emerged outside the ODP, while in 9.6% of cases, the type of CRA emergence could be characterized as mixed. The number of CRAs, that ranged from 1 to 4, was positively associated with ODP size. In the fellow normal eyes, CRAs was found in 22.2% of cases, difference which was significant compared to patients with ODP. Conclusion: Based on the high percentage of CRAs coexistence with ODP and the excessive frequency of their emergence from ODP (83.3%), it is supported that ODP as a developmental disorder could go along with further anatomic peculiarities, that also include the presence of multiple CRAs.
Assuntos
Artérias Ciliares/patologia , Anormalidades do Olho/patologia , Disco Óptico/anormalidades , Doenças do Nervo Óptico/patologia , Vasos Retinianos/patologia , Adolescente , Adulto , Feminino , Angiofluoresceinografia , Humanos , Masculino , Estudos Retrospectivos , Tomografia de Coerência Óptica , Adulto JovemRESUMO
OBJECTIVES: The aim of this paper is a quantitative assessment of FASD facial phenotype in the Polish population using the Polish version of the 4-Digit Diagnostic Code. METHODS: The study covered 2 groups of children: 30 children aged 4-7 and 30 children aged 8-11 with a facial phenotype characteristic for the Fetal Alcohol Syndrome (FAS). The control group consisted of 60 children (4-11 years old) developing normally. We compared 3 facial features (small palpebral fissure lengths, smooth philtrum and thin upper lip). The repeatability, conformity and diagnostic accuracy of particular dysmorphic features of the study were assessed. RESULTS: Obtained values for palpebral fissure were "poor", "good" and "very good", for philtrum "good" and "very good" and for upper lip "good" and "very good". As for conformity, values for palpebral fissure were "moderate" and 'good", for philtrum - "good" and for upper lip also "good". In the experimental group, the FAS diagnostic criteria were met by 13 subjects, partial FAS criteria were met by 37 subjects and the criteria of static encephalopathy with no FAS phenotype were met by 2 subjects. None of the subjects in the control group met these criteria. CONCLUSIONS: The pictorial scale for the assessment of the facial dysmorphic features proved to be a useful tool in the clinical diagnostics of FAS in the Polish conditions. Due to the problems associated with the measurement of the palpebral fissure, it is necessary to verify the normal growth charts for the Polish population.
Assuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Anormalidades Craniofaciais/diagnóstico , Anormalidades do Olho/diagnóstico , Fácies , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Criança , Pré-Escolar , Codificação Clínica , Feminino , Humanos , Masculino , Fenótipo , Polônia , Valor Preditivo dos Testes , Reprodutibilidade dos TestesRESUMO
BACKGROUND: The aim was to evaluate the effect of the tilted optic disc on the visual field in highly myopic eyes. METHODS: A total of 58 eyes from 58 highly myopic individuals underwent detailed ophthalmic examination and were categorised into two groups according to the presence of a tilted optic disc. The visual field of 20 eyes (mean age of 28.95 ± 7.22 years) with tilted optic discs were compared with 38 eyes (mean age of 27.87 ± 6.08 years) of control subjects without tilted optic discs using the 30-2 SITA standard protocol with a Humphrey Field Analyzer - HFA II-i. Optic disc tilt was assessed from retinal photographs exported to Adobe Photoshop software. Disc ovality was assessed using the ratio of minimum to maximum disc diameter. A ratio of up to 0.80 was considered a tilted optic disc. RESULTS: Foveal threshold sensitivity showed no statistically significant difference between tilted and non-tilted groups (35.16 ± 2.71 dB versus 35.37 ± 2.35 dB, p = 0.76). The mean deviation was -3.29 ± 2.03 dB in the tilted group and -3.49 ± 2.56 dB in the non-tilted group (p = 0.77). Additionally, there were no significant differences in the average deviation between the two groups in four quadrants and four hemifields; however, the lowest average deviation was observed in the superotemporal quadrant in the tilted group (-4.54 ± 3.16 dB). In the non-tilted group, 29 per cent had no visual field defect, 24 per cent had an arcuate scotoma and 20 per cent had generalised depression. In the tilted group, 30 per cent had an arcuate scotoma, 30 per cent had generalised depression and 13 per cent had no visual field defect. Other visual field defects occurred at frequencies less than 15 per cent in both groups. CONCLUSIONS: The investigation of visual field patterns may be more appropriate than quantitative indices (for example, total mean deviation, foveal threshold sensitivity, average deviation) to assess the visual field in highly myopic patients with tilted optic discs.
Assuntos
Anormalidades do Olho/fisiopatologia , Miopia Degenerativa/fisiopatologia , Disco Óptico/anormalidades , Escotoma/fisiopatologia , Campos Visuais/fisiologia , Adulto , Comprimento Axial do Olho/fisiopatologia , Feminino , Humanos , Pressão Intraocular , Masculino , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia , Testes de Campo Visual , Adulto JovemRESUMO
OBJECTIVE: To construct prenatal age-specific reference intervals using ultrasound measurement of total axial length (TAL) in normal fetuses for assessing microphthalmia. METHOD: Prospective cross-sectional study of fetuses assessed at a prenatal ultrasound unit between 2011 and 2014. The study cohort comprised 309 pregnant women attending for routine fetal biometry, viability, or anomaly scan between 14 and 41 weeks of gestation. Only singleton viable fetus with normal anatomy, adequate amniotic fluid, accurate gestational age, and no maternal medical complications of pregnancy were enrolled. Biometric measurements were obtained in the axial plane in all the fetuses. Those measurements and the relevant gestational age were registered in a computerized database. RESULTS: A linear growth function was observed between gestational age and bi-orbital diameter (r(2) = 0.95; p < 0.001), ln (TAL) (r2 = 0.89; p < 0.001), OD (r(2) = 0.86; p < 0.001), and IOD (r2 = 0.79; p < 0.001). Tables showing the 5th, 50th, and 95th centiles of orbital parameters were created based on the reference interval charts. CONCLUSIONS: Ultrasound measurement of the fetal TAL ocular distance is feasible. This may assist the multidisciplinary team in the evaluation of fetal eye abnormalities that might be expressed by deviation in TAL.
Assuntos
Olho/diagnóstico por imagem , Idade Gestacional , Microftalmia/diagnóstico por imagem , Órbita/diagnóstico por imagem , Adolescente , Adulto , Estudos Transversais , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/diagnóstico por imagem , Feminino , Humanos , Masculino , Microftalmia/diagnóstico , Gravidez , Estudos Prospectivos , Valores de Referência , Ultrassonografia Pré-Natal , Adulto JovemAssuntos
Humanos , Tracoma/complicações , Tracoma/patologia , Tracoma/cirurgia , Triquíase/patologia , Triquíase/cirurgia , Triquíase/terapia , Procedimentos Cirúrgicos Oftalmológicos , Controle de Doenças Transmissíveis , Controle de Doenças Transmissíveis/prevenção & controle , Infecções Oculares/cirurgia , Anormalidades do Olho/cirurgiaAssuntos
Transplante de Células-Tronco de Sangue do Cordão Umbilical , Anormalidades do Olho/terapia , Nervo Óptico/anormalidades , Criança , Pré-Escolar , Anormalidades do Olho/fisiopatologia , Humanos , Lactente , Marketing de Serviços de Saúde/economia , Marketing de Serviços de Saúde/legislação & jurisprudência , Acuidade Visual/fisiologiaRESUMO
Whole gene deletions or duplications are an important cause of genetic disease and phenotypic variation. Targeted techniques for the routine testing of gross rearrangements have become essential tools for diagnostic researchers with the search for the most cost-effective and efficient tool assuming high priority. We used the new selector technique, MLGA (multiplex ligation-dependent genome amplification), to confirm deletions in two genes, SOX2 (SRY [sex determining region Y]) box 2) and OTX2 (orthodenticle homeobox 2), in individuals with developmental eye disease. We conclude that MLGA has the potential to be a useful technique in diagnostic research for the identification of deletions or duplications of known genes due to its speed and relatively low cost.
Assuntos
Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Deleção de Genes , Técnicas de Amplificação de Ácido Nucleico/economia , Técnicas de Amplificação de Ácido Nucleico/métodos , Estudos de Casos e Controles , Análise Custo-Benefício , Humanos , Fatores de Transcrição Otx/genética , Fatores de Transcrição SOXB1/genéticaRESUMO
BACKGROUND: The assessment of individuals at risk of fetal alcohol spectrum disorders (FASD) includes the assessment of the craniofacial features that can result from prenatal alcohol exposure. The characteristic facial features of fetal alcohol syndrome (FAS) consist of short palpebral fissures, smooth or flattened philtrum, and thin vermilion border of the upper lip. There are various methods for measuring palpebral fissure lengths (PFLs) and it can be challenging for clinicians to obtain reproducibly accurate measurements. The development of the FAS Facial Photographic Analysis Software by the University of Washington FAS Diagnostic and Prevention Network (DPN) is one such means of improving the accuracy and reproducibility in these measurements. OBJECTIVES: To assess concordance across three methods of PFL measurement: 1) a clear plastic handheld ruler, 2) blunt precision slide calipers, and 3) digital photometric photography (FAS Facial Photographic Analysis Software). METHODS: The PFLs of 50 children (referred to the Clinic for Alcohol and Drug Exposed Children, CADEC) at Children's Hospital in Winnipeg and 50 adults from the University of Manitoba Medical Class of 2008 were measured once by a single clinician, using each of the three methods. The frequency and magnitude of discordance was tabulated. No method served as a gold-standard. RESULTS: The PFLs ranged from 20 to 32 mm. The ruler and photometric measures were concordant in 42% of the subjects. When measures were discordant, half the ruler measures were larger and half were smaller. The caliper measure was concordant with the photometric and ruler measures on 18% and 24% of the subjects, respectively. When measures were discordant, the caliper measures were almost always larger than the photometric and ruler method (0.5 to 2.5 mm larger, 83% and 95% of the time, respectively). The presence of epicanthal folds did not appear to be a factor that contributed to discordance. CONCLUSION: This study demonstrates the challenge in measuring the PFL, even when a single trained clinician is involved. Factors that can contribute to error include the subject's willingness to cooperate, ability to tolerate placement of the tool close enough to the eye to obtain an accurate measure, and precision of the tool. When controlling for the clinician performing the measurements and the quality of the photographs, the ruler and photometric measures were most concordant. The caliper measures tended to measure larger than the ruler and photometric measures.