RESUMO
BACKGROUND: To report the outcomes of low-dose atropine (0.01% and 0.05%) for preventing myopia progression in a real-world Australian cohort during the COVID-19 pandemic. METHODS: Records of children presenting with myopia, from January 2016 to 2022, were retrospectively reviewed at a comprehensive ophthalmic practice. Children who discontinued treatment, ages >18, and cases with hereditary conditions were excluded. The rate of progression of myopia after treatment with atropine was compared with historical data to evaluate the effectiveness of the regime. RESULTS: One hundred and one children (mean baseline spherical equivalent [SphE] [-3.70 +/- 2.09 D] and axial length [AL] [24.59 +/- 1.00 mm]) were analysed. The mean age of the children was 10.4 +/- 2.89 years and 61% were females. The average follow-up time was 17.9 +/- 12.5 months. The mean rate of progression of AL and SphE on 0.01% atropine eyedrops was 0.219 +/- 0.35 mm and - 0.250 +/- 0.86 D/year, respectively. 68.1% of the children treated with 0.01% atropine were mild progressors (<0.5 D change/year). Non-responders when commenced on a higher dose of atropine (0.05%) experienced a 93% (p = 0.012) and 30% reduction in SphE and AL growth rate, respectively. Family history, higher myopia or younger age at baseline and shorter duration of treatment were associated with steeper progression (p < 0.01). Both doses were well tolerated. CONCLUSIONS: Low-dose atropine was shown to be beneficial in a real-world clinical setting, despite interruptions to follow-ups secondary to COVID-19 pandemic. A 0.05% dose of atropine may be effective in cases where 0.01% was ineffective.
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COVID-19 , Miopia , Criança , Feminino , Humanos , Adolescente , Masculino , Atropina/farmacologia , Atropina/uso terapêutico , Estudos Retrospectivos , Pandemias , COVID-19/epidemiologia , Austrália/epidemiologia , Miopia/tratamento farmacológico , Miopia/epidemiologia , Refração Ocular , Soluções Oftálmicas , Comprimento Axial do Olho , Progressão da Doença , Midriáticos/uso terapêuticoRESUMO
Purpose: ADAMTSL4-associated ectopia lentis is a rare autosomal recessive condition that is primarily associated with crystalline lens displacement. However, the prevalence of other ocular and systemic manifestations of this condition is poorly understood. In this study, we summarize the ocular and systemic phenotypic spectrum of this condition. Methods: A cross-sectional case study series of four individuals with biallelic pathogenic or likely pathogenic ADAMTSL4 variants was performed alongside a literature review of individuals with ADAMTSL4-associated ectopia lentis on September 29, 2021. Ocular and systemic findings, complications, and genetic findings of all four individuals were collected and summarized. Results: The phenotypic spectrum across 91 individuals sourced from literature and four individuals from this case study series was highly variable. The main ocular phenotypes included ectopia lentis (95/95, 100%), ectopia lentis et pupillae (18/95, 19%), iris transillumination (13/95, 14%), iridodonesis (12/95, 13%), persistent pupillary membrane (12/95, 13%), and early-onset cataract or lens opacities (12/95, 13%). Anterior segment features other than ectopia lentis appeared to be exclusively associated with biallelic loss of function variants (p<0.001). Pupillary block glaucoma had a prevalence of 1%. Post-lensectomy complications included retinal detachment (6/41, 15%), elevated intraocular pressure (4/41, 10%), and aphakic glaucoma (1/41, 2%). Most individuals were not reported to have had systemic features (69/95, 73%). Conclusions: The clinical phenotype of ADAMTSL4-associated ectopia lentis was summarized and expanded. Clinicians should be aware of the varied ocular phenotype and the risks of retinal detachment, ocular hypertension, and glaucoma in the diagnosis and management of this condition.
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Ectopia do Cristalino , Glaucoma , Descolamento Retiniano , Humanos , Ectopia do Cristalino/complicações , Ectopia do Cristalino/genética , Ectopia do Cristalino/diagnóstico , Linhagem , Estudos Transversais , Proteínas ADAMTS/genética , Fenótipo , Glaucoma/complicações , Glaucoma/genéticaRESUMO
PURPOSE: To report the relative frequencies of childhood and early onset glaucoma subtypes and their genetic findings in a large single cohort. DESIGN: Retrospective clinical and molecular study. PARTICIPANTS: All individuals with childhood glaucoma (diagnosed 0 to <18 years) and early onset glaucoma (diagnosed 18 to <40 years) referred to a national disease registry. METHODS: We retrospectively reviewed the referrals of all individuals with glaucoma diagnosed at <40 years of age recruited to the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Subtypes of glaucoma were determined using the Childhood Glaucoma Research Network (CGRN) classification system. DNA extracted from blood or saliva samples underwent sequencing of genes associated with glaucoma. MAIN OUTCOME MEASURES: The phenotype and genotype distribution of glaucoma diagnosed at <40 years of age. RESULTS: A total of 290 individuals (533 eyes) with childhood glaucoma and 370 individuals (686 eyes) with early onset glaucoma were referred to the ANZRAG. Primary glaucoma was the most prevalent condition in both cohorts. In the childhood cohort, 57.6% of individuals (167/290, 303 eyes) had primary congenital glaucoma (PCG), and 19.3% (56/290, 109 eyes) had juvenile open-angle glaucoma. Juvenile open-angle glaucoma constituted 73.2% of the early onset glaucoma cohort (271/370, 513 eyes). Genetic testing in probands resulted in a diagnostic yield of 24.7% (125/506) and a reclassification of glaucoma subtype in 10.4% of probands (13/125). The highest molecular diagnostic rate was achieved in probands with glaucoma associated with nonacquired ocular anomalies (56.5%). Biallelic variants in CYP1B1 (n = 29, 23.2%) and heterozygous variants in MYOC (n = 24, 19.2%) and FOXC1 (n = 21, 16.8%) were most commonly reported among probands with a molecular diagnosis. Biallelic CYP1B1 variants were reported in twice as many female individuals as male individuals with PCG (66.7% vs. 33.3%, P = 0.02). CONCLUSIONS: We report on the largest cohort of individuals with childhood and early onset glaucoma from Australasia using the CGRN classification. Primary glaucoma was most prevalent. Genetic diagnoses ascertained in 24.7% of probands supported clinical diagnoses and genetic counseling. International collaborative efforts are required to identify further genes because the majority of individuals still lack a clear molecular diagnosis.
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Proteínas do Olho/genética , Perfil Genético , Glaucoma/classificação , Pressão Intraocular/fisiologia , Mutação , Sistema de Registros , Adolescente , Austrália/epidemiologia , Criança , Pré-Escolar , Proteínas do Olho/metabolismo , Feminino , Testes Genéticos , Genótipo , Glaucoma/epidemiologia , Glaucoma/genética , Humanos , Lactente , Recém-Nascido , Masculino , Nova Zelândia/epidemiologia , Linhagem , Fenótipo , Estudos RetrospectivosRESUMO
PURPOSE: Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CPAMD8 is a gene of unknown function recently associated with ocular anterior segment dysgenesis, myopia, and ectopia lentis. We sought to assess the contribution of biallelic CPAMD8 variants to childhood and juvenile open-angle glaucoma. DESIGN: Retrospective, multicenter case series. PARTICIPANTS: A total of 268 probands and their relatives with a diagnosis of childhood or juvenile open-angle glaucoma. PURPOSE: Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CPAMD8 is a gene of unknown function recently associated with ocular anterior segment dysgenesis, myopia, and ectopia lentis. We sought to assess the contribution of biallelic CPAMD8 variants to childhood and juvenile open-angle glaucoma. METHODS: Patients underwent a comprehensive ophthalmic assessment, with DNA from patients and their relatives subjected to genome, exome, or capillary sequencing. CPAMD8 RNA expression analysis was performed on tissues dissected from cadaveric human eyes. MAIN OUTCOME MEASURES: Diagnostic yield within a cohort of childhood and juvenile open-angle glaucoma, prevalence and risk of ophthalmic phenotypes, and relative expression of CPAMD8 in the human eye. RESULTS: We identified rare (allele frequency < 4×10-5) biallelic CPAMD8 variants in 5.7% (5/88) of probands with childhood glaucoma and 2.1% (2/96) of probands with juvenile open-angle glaucoma. When including family members, we identified 11 individuals with biallelic variants in CPAMD8 from 7 unrelated families. Nine of these individuals were diagnosed with glaucoma (9/11, 81.8%), with a mean age at diagnosis of 9.22±14.89 years, and all individuals with glaucoma required 1 or more incisional procedures to control high intraocular pressure. Iris abnormalities were observed in 9 of 11 individuals, cataract was observed in 8 of 11 individuals (72.7%), and retinal detachment was observed in 3 of 11 individuals (27.3%). CPAMD8 expression was highest in neural crest-derived tissues of the adult anterior segment, suggesting that CPAMD8 variation may cause malformation or obstruction of key drainage structures. CONCLUSIONS: Biallelic CPAMD8 variation was associated with a highly heterogeneous phenotype and in our cohorts was the second most common inherited cause of childhood glaucoma after CYP1B1 and juvenile open-angle glaucoma after MYOC. CPAMD8 sequencing should be considered in the investigation of both childhood and juvenile open-angle glaucoma, particularly when associated with iris abnormalities, cataract, or retinal detachment.
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Segmento Anterior do Olho/anormalidades , Complemento C3/genética , Anormalidades do Olho/genética , Glaucoma de Ângulo Aberto/genética , Polimorfismo de Nucleotídeo Único , Inibidor da Tripsina Pancreática de Kazal/genética , alfa-Macroglobulinas/genética , Adolescente , Adulto , Criança , Pré-Escolar , Exoma/genética , Feminino , Frequência do Gene , Humanos , Hidroftalmia/genética , Lactente , Recém-Nascido , Masculino , Linhagem , Fenótipo , RNA/genética , Estudos Retrospectivos , Análise de Sequência de DNA , Adulto JovemRESUMO
Purpose: This report discusses a case of North Carolina macular dystrophy (NCMD) in a 7-year-old boy initially diagnosed as congenital toxoplasmosis. Genetic testing was performed on the child and his family after the suspicion of NCMD was raised by the treating ophthalmologist. This case report highlights the similarities between congenital toxoplasmosis and NCMD. Methods: DNA was collected from the family with consent and underwent comparative genomic hybridization and Sanger sequencing. Results: Genetic testing identified a previously reported single base substitution (chromosome 6: 99,593,111 (G>C) NC_000006.11(GRCh38):g.100040987G>C), which confirms a diagnosis of NCMD. Conclusions: We believe this is the first confirmed case of NCMD in Australia. This case highlights the similarities between NCMD and more commonly recognized conditions, such as ocular toxoplasmosis, and raises the question; How many other cases are misdiagnosed as ocular toxoplasmosis?
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Distrofias Hereditárias da Córnea/diagnóstico , Toxoplasmose Ocular/congênito , Toxoplasmose Ocular/diagnóstico , Pré-Escolar , Erros de Diagnóstico , Fundo de Olho , Humanos , MasculinoRESUMO
BACKGROUND: Criteria for screening preterm infants for retinopathy of prematurity vary around the world. We aimed to analyse the efficacy of alternative screening criteria. DESIGN: We collected retrospective data at a tertiary level neonatal nursery. PARTICIPANTS: Our participants were 1007 babies, born between 1997 and 2011, at <32 weeks gestational age or <1500 g birth weight (as recommended by the National Health and Medical Research Council in 1996), who had completed follow-up to full retinal vascularization, with defined presence or absence of retinopathy of prematurity. METHODS: We determined whether disease would be detected using an alternative Australian screening model (gestational age <30 weeks or birth weight <1250 g) or screening criteria utilized in developed countries with similar standards of neonatal care. MAIN OUTCOME MEASURES: Detection of retinopathy of prematurity is our main outcome. RESULTS: Using several of the alternative criteria, two neonates with clinically significant retinopathy of prematurity, one of whom required laser treatment to preserve sight, would not have been screened, and their disease may have gone undetected. Use of <30 weeks gestational age or <1500 g birth weight as the criteria would still have screened these infants but would have reduced the number of infants screened by 24.9%. CONCLUSIONS: Some commonly utilized international screening criteria for retinopathy of prematurity may risk clinically significant cases being missed and others may screen babies unnecessarily. Alternative criteria should be considered and '<30 weeks gestational age and/or <1500 g birth weight' appears a viable option.
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Técnicas de Diagnóstico Oftalmológico/normas , Programas de Rastreamento/normas , Triagem Neonatal/normas , Retinopatia da Prematuridade/diagnóstico , Austrália/epidemiologia , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido de muito Baixo Peso , Programas Nacionais de Saúde/normas , Guias de Prática Clínica como Assunto/normas , Prevalência , Retinopatia da Prematuridade/epidemiologia , Estudos Retrospectivos , Fatores de RiscoRESUMO
The popularity of intense pulsed light (IPL) therapy continues to increase due to its relative safety, high skin coverage rate and ability to treat both vascular and pigmented lesions. An often-overlooked risk is the potential for IPL-induced ocular damage. The damage sustained can cause significant, persistent morbidity and can occur even with very limited IPL exposure to the eye.
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Capilares/anormalidades , Terapia de Luz Pulsada Intensa/efeitos adversos , Irite/etiologia , Malformações Vasculares/terapia , Adulto , Pálpebras/irrigação sanguínea , Feminino , Humanos , Irite/tratamento farmacológico , Telangiectasia/terapiaRESUMO
STUDY OBJECTIVES: This study investigated the differences in melatonin circadian timing and output, sleep characteristics, and cognitive function in myopic and non-myopic (or emmetropic) children, aged 8-15 years. METHODS: Twenty-six myopes (refractive error [meanâ ±â standard error mean] -2.06â ±â 0.23 diopters) and 19 emmetropes (-0.06â ±â 0.04 diopters), aged 11.74â ±â 2.31 years were recruited. Circadian timing was assessed using salivary dim-light melatonin onset (DLMO), collected half-hourly for 7 hours, beginning 5 hours before and finishing 2 hours after individual average sleep onset in a sleep laboratory. Nocturnal melatonin output was assessed via aMT6s levels from urine voids collected from 05:30 pm to 8:00 am the following morning. Actigraphy-derived objective sleep timing were acquired for a week prior to the sleep laboratory visit. Cognitive assessments of sustained attention (using psychomotor vigilance task [PVT]) and working memory (using digit spans) were performed on the night of sleep laboratory. RESULTS: Myopic children (9:07 pmâ ±â 14 minutes) exhibited a DLMO phase-delay of 1 hour 8 minutes compared to emmetropes (7:59 pmâ ±â 13 minutes), pâ =â 0.002. aMT6s melatonin levels were significantly lower among myopes (18.70â ±â 2.38) than emmetropes (32.35â ±â 6.93, pâ =â 0.001). Myopes also exhibited significantly delayed sleep onset, delayed wake-up time, poor and reduced sleep, and more evening-type diurnal preference than emmetropes (all pâ <â 0.05). Finally, myopes showed a slower reaction time in the PVT (pâ <â 0.05), but not digit span tasks at night. CONCLUSIONS: These findings suggest a potential association between circadian rhythm dysfunction and myopia in children.
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Melatonina , Miopia , Criança , Humanos , Sono , Ritmo Circadiano , VigíliaRESUMO
Fluorescein angiography in retinopathy of prematurity is increasingly utilized over the past decade. The development of ultra-wide-field imaging combined with fluorescein angiography has allowed improved visualization of the peripheral retinal vasculature. Patient cooperation in the pediatric population is particularly challenging, but hand-held digital retinal photography has shown promise and can visualize the infant retina without the need for anesthesia and intravenous access. Many features of retinopathy of prematurity and its response to laser and anti-VEGF treatment can be either exclusively or better visualized on fluorescein angiography compared to indirect ophthalmoscopy or color fundus photography. Disease treatment is gradually shifting from laser photocoagulation to intravitreal anti-VEGF agents, the latter being associated with late-onset vision-threatening sequelae. The role of fluorescein angiography in retinopathy of prematurity monitoring will continue to increase with the longer follow-up required and different clinical behavior seen with anti-VEGF treatment. We highlight the utility, safety, and importance of fluorescein angiography in the diagnosis, treatment, and follow-up of retinopathy of prematurity.
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Retinopatia da Prematuridade , Recém-Nascido , Humanos , Lactente , Criança , Angiofluoresceinografia/métodos , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/cirurgia , Retina , Recém-Nascido Prematuro , Vasos Retinianos/diagnóstico por imagem , Estudos RetrospectivosRESUMO
Axenfeld-Rieger syndrome is an autosomal dominant condition associated with multisystemic features including developmental anomalies of the anterior segment of the eye. Single nucleotide and copy number variants in the paired-like homeodomain transcription factor 2 (PITX2) and forkhead box C1 (FOXC1) genes are associated with Axenfeld-Rieger syndrome as well as other CNS malformations. We determined the association between Axenfeld-Rieger syndrome and specific brain MR imaging neuroradiologic anomalies in cases with or without a genetic diagnosis. This case series included 8 individuals with pathogenic variants in FOXC1; 2, in PITX2; and 2 without a genetic diagnosis. The most common observation was vertebrobasilar artery dolichoectasia, with 46% prevalence. Other prevalent abnormalities included WM hyperintensities, cerebellar hypoplasia, and ventriculomegaly. Vertebrobasilar artery dolichoectasia and absent/hypoplastic olfactory bulbs were reported in >50% of individuals with FOXC1 variants compared with 0% of PITX2 variants. Notwithstanding the small sample size, neuroimaging abnormalities were more prevalent in individuals with FOXC1 variants compared those with PITX2 variants.
RESUMO
PURPOSE: Axenfeld-Rieger syndrome encompasses a group of developmental disorders affecting the anterior chamber structures of the eye, with associated systemic features in some cases. This study aims to compare the difference in anterior segment phenotypes such as those involving the cornea, iris, lens, and anterior chamber angle between cases with disease-causing sequence variations in FOXC1 and PITX2 . METHODS: This cross-sectional study involved 61 individuals, from 32 families with pathogenic FOXC1 or PITX2 variants, who were registered with the Australian and New Zealand Registry of Advanced Glaucoma. RESULTS: The median age of the cohort was 39 years at the time of last assessment (range 3-85 years; females, 54%). Thirty-two patients had pathogenic variants in the FOXC1 gene, and 29 patients had pathogenic variants in the PITX2 gene. Corneal abnormalities were more common in individuals with FOXC1 variants (18/36, 50%) than those with PITX2 variants (4/25, 16%; P = 0.007). Iris abnormalities such as hypoplasia ( P = 0.008) and pseudopolycoria ( P = 0.001) were more common in individuals with PITX2 variants than those with FOXC1 variants. Glaucoma was present in 72% of participants. Corneal decompensation was positively associated with corneal abnormalities ( P < 0.001), glaucoma surgery ( P = 0.025), and cataract surgery ( P = 0.002). CONCLUSIONS: Corneal abnormalities were more common in individuals with FOXC1 than in those with PITX2 variants and were often associated with early onset glaucoma. These findings highlight that patients with FOXC1 variations require close follow-up and monitoring throughout infancy and into adulthood.
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Anormalidades do Olho , Oftalmopatias Hereditárias , Fatores de Transcrição Forkhead , Glaucoma , Proteínas de Homeodomínio , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Segmento Anterior do Olho/anormalidades , Austrália , Criança , Pré-Escolar , Estudos Transversais , Anormalidades do Olho/genética , Oftalmopatias Hereditárias/genética , Feminino , Fatores de Transcrição Forkhead/genética , Glaucoma/genética , Proteínas de Homeodomínio/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Fatores de Transcrição/genética , Adulto Jovem , Proteína Homeobox PITX2RESUMO
OBJECTIVE: Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to identify variants likely to be causative of disease in an Australian patient cohort. METHODS AND ANALYSIS: Sixty-three reported isolated cataract genes were screened for rare coding variants in 37 Australian families using genome sequencing. RESULTS: Disease-causing variants were confirmed in eight families with variant classification as 'likely pathogenic'. This included novel variants PITX3 p.(Ter303LeuextTer100), BFSP1 p.(Glu375GlyfsTer2), and GJA8 p.(Pro189Ser), as well as, previously described variants identified in genes GJA3, GJA8, CRYAA, BFSP1, PITX3, COL4A1 and HSF4. Additionally, eight variants of uncertain significance with evidence towards pathogenicity were identified in genes: GJA3, GJA8, LEMD2, PRX, CRYBB1, BFSP2, and MIP. CONCLUSION: These findings expand the genotype-phenotype correlations of both pathogenic and benign variation in cataract-associated genes. They further emphasise the need to develop additional evidence such as functional assays and variant classification criteria specific to paediatric cataract genes to improve interpretation of variants and molecular diagnosis in patients.
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Catarata , Cristalino , Austrália , Catarata/diagnóstico , Humanos , Cristalino/patologia , Proteínas de Membrana/genética , Mutação , Proteínas Nucleares/genética , LinhagemRESUMO
Introduction: The use of limbal stay sutures is a well-established and frequently used technique to assist in intraoperative globe manipulation. As they are removed at the termination of the surgical procedure, they are presumed to be innocuous and not associated with significant postoperative complications.Methods: We describe two cases presenting to the same tertiary care center for the management of their complications post strabismus surgery, the causative factor in both cases being the stay sutures used during the surgical procedure. The clinical details of each case are discussed, followed by a literature review.Cases: Case 1 showed evidence of epithelial ingrowth into the cornea from the stay suture site. This case, previously reported by the senior author, is now described over an eight-year period, along with clinical photographs. Case 2 developed microbial keratitis and postoperative endophthalmitis with the locus at the stay suture site.Discussion: Complications of stay suture are rare but can occur, with potentially blinding sequelae. It is important to be aware of these risks and consider alternate methods of globe traction during strabismus surgery.
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Oftalmologia , Estrabismo , Humanos , Músculos Oculomotores/cirurgia , Complicações Pós-Operatórias , Estrabismo/cirurgia , Técnicas de Sutura , Suturas/efeitos adversosRESUMO
Importance: Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly in individuals with variants in FOXC1 or PITX2 genes associated with Axenfeld-Rieger syndrome, makes it more difficult to diagnose patients with milder phenotypes. These cases are occasionally classified and managed as primary congenital glaucoma. Objective: To investigate the prevalence of FOXC1 variants in participants with a suspected diagnosis of primary congenital glaucoma. Design, Setting, and Participants: Australian and Italian cohorts were recruited from January 1, 2007, through March 1, 2016. Australian individuals were recruited through the Australian and New Zealand Registry of Advanced Glaucoma and Italian individuals through the Genetic and Ophthalmology Unit of l'Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda in Milan, Italy. We performed exome sequencing, in combination with Sanger sequencing and multiplex ligation-dependent probe amplification, to detect variants of FOXC1 in individuals with a suspected diagnosis of primary congenital glaucoma established by their treating specialist. Data analysis was completed from June 2015 to November 2017. Main Outcome and Measures: Identification of single-nucleotide and copy number variants in FOXC1, along with phenotypic characterization of the individuals who carried them. Results: A total of 131 individuals with a suspected diagnosis of primary congenital glaucoma were included. The mean (SD) age at recruitment in the Australian cohort was 24.3 (18.1) years; 37 of 84 Australian participants (44.0%) were female, and 71 of 84 (84.5%) were of European ancestry. The mean (SD) age at recruitment was 22.5 (18.4) years in the Italian cohort; 21 of 47 Italian participants (44.7%) were female, and 45 of 47 (95.7%) were of European ancestry. We observed rare, predicted deleterious FOXC1 variants in 8 of 131 participants (6.1%), or 8 of 166 participants (4.8%) when including those explained by variants in CYP1B1. On reexamination or reinvestigation, all of these individuals had at least 1 detectable ocular and/or systemic feature associated with Axenfeld-Rieger syndrome. Conclusions and Relevance: These data highlight the genetic and phenotypic heterogeneity of childhood glaucoma and support the use of gene panels incorporating FOXC1 as a diagnostic aid, especially because clinical features of Axenfeld-Rieger syndrome can be subtle. Further replication of these results will be needed to support the future use of such panels.
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Fatores de Transcrição Forkhead/genética , Glaucoma/epidemiologia , Glaucoma/genética , Adolescente , Adulto , Austrália/epidemiologia , Criança , Feminino , Glaucoma/congênito , Humanos , Masculino , Nova Zelândia/epidemiologia , Prevalência , Adulto JovemRESUMO
PURPOSE: To comprehensively assess the reliability of automated Pentacam (Oculus, Inc.) measurements. SETTING: Flinders Eye Centre, Flinders Medical Centre, Bedford Park, South Australia, Australia. METHODS: Both eyes of 35 normal volunteers were tested twice on the same day by 2 different observers. All automated values were recorded, and manual analysis of topographic maps was performed only to overrule variance in corneal thickness due to pupil decentration altering the central reference point. Repeatability was determined with Bland-Altman limits of agreement and reported as the coefficient of repeatability (COR = +/-1.96 standard deviation of differences). Relative repeatability (RR) was calculated as a percentage of the ratio of COR to the mean. RESULTS: Overall, repeatability was good. Corneal curvature, reported in diopters, showed good repeatability anteriorly (simulated keratometry mean COR+/-0.28D; RR=0.64%) and posteriorly (COR+/-011D; RR=1.85%). Peripheral corneal curvature was more reliable when calculated by the sagittal (axial) method (RR=1.57%) than by the tangential (meridional) method (RR=2.38%). Keratometric power deviation was less reliable (RR=16.39%). Anterior chamber measurements showed good reliability (RR=3.07%-5.68%) except for anterior chamber angle (RR=14.41%). Pupil diameter showed poor reliability (RR=25.77%). Central corneal thickness was comparable at pupil center and corneal vertex, but peripheral repeatability was much better when centered on the corneal vertex (COR+/-16.00microm; RR=2.56%) than at pupil center (COR+/-26.28microm; RR=4.23%). CONCLUSIONS: Pentacam corneal curvature and anterior chamber parameters were highly repeatable, but pupil measurements had poor repeatability. Peripheral pachymetry readings were affected by pupil decentration and required manual analysis using the corneal vertex as the point of reference to achieve good repeatability.
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Segmento Anterior do Olho/anatomia & histologia , Automação , Técnicas de Diagnóstico Oftalmológico/instrumentação , Fotografação/métodos , Adolescente , Adulto , Idoso , Biometria/métodos , Criança , Topografia da Córnea , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pupila/fisiologia , Reprodutibilidade dos TestesRESUMO
PURPOSE: To assess the repeatability of corneal wavefront aberrations derived from Pentacam (Oculus) corneal topography. SETTING: Flinders Eye Centre, Flinders Medical Centre, Bedford Park, South Australia, Australia. METHODS: Forty-five normal participants and 10 participants with keratoconus were tested. Intraobserver and interobserver repeatability was determined using 4 observers within and between sessions. Topographical maps were exported to external software, and corneal first-surface wavefront aberrations were calculated using a 10th-order Zernike expansion over a 6.0 mm optical zone. Repeatability was determined with Bland-Altman limits of agreement and expressed as the coefficient of repeatability (COR). RESULTS: Initial data showed high wavefront aberrations in normal participants and poor repeatability. Topographical maps showed extrapolated topography in zones without data acquisition; maps with less than 6.0 mm of complete data were excluded in the final analysis. The mean wavefront aberrations for normal participants remained high, but repeatability improved. The COR relative to the magnitude of wavefront aberrations was high (average 100%) across all modal pairs and orders, although best for total higher-order root mean square. Participants with keratoconus had higher magnitude wavefront aberrations and poorer repeatability but similar COR to average wavefront aberration ratios. Examination of raw elevation data showed poor repeatability. CONCLUSIONS: Wavefront aberrations calculated from Pentacam corneal topography were large in magnitude, and reliability was poor, largely due to variability in corneal elevation data. Intraobserver and interobserver reliability within and between sessions was comparable. The Pentacam was not reliable in measuring corneal wavefront aberrations.
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Córnea/patologia , Topografia da Córnea/métodos , Ceratocone/diagnóstico , Fotografação/métodos , Erros de Refração/diagnóstico , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Estudos Prospectivos , Refração Ocular , Reprodutibilidade dos TestesRESUMO
Idiopathic intracranial hypertension can cause severe optic nerve damage with irreversible visual loss. Heidelberg retina tomography is a sensitive and reproducible tool that can be used in the monitoring of optic disc swelling due to IIH. We demonstrate that the three-dimensional images produced are easy to interpret, indicate progression or resolution and improve the timing of intervention in multidisciplinary settings by facilitating communication between specialists.
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Hipertensão Intracraniana/complicações , Microscopia Confocal , Oftalmoscopia , Papiledema/diagnóstico , Papiledema/etiologia , Adulto , Progressão da Doença , Feminino , Humanos , Imageamento Tridimensional , Hipertensão Intracraniana/cirurgiaRESUMO
Free-floating vitreous cysts have been ocular curiosities, especially in children. Various etiologies have been proposed. Most of these cysts are asymptomatic except for subtle symptoms of visual floaters. When the visual axis is obscured, treatment options include surgery and laser treatment. We report a case of a unilateral pigmented vitreous cyst in a child.
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Cistos/diagnóstico , Oftalmopatias/diagnóstico , Epitélio Pigmentado Ocular/patologia , Corpo Vítreo/patologia , Criança , Diagnóstico Diferencial , Feminino , Seguimentos , HumanosRESUMO
Proptosis in the neonatal period is relatively infrequent and has diverse underlying etiologies. One of the more common causes appears to be orbital subperiosteal hematoma. Early detection, differentiation from other causes, and regular follow-up are essential as loss of vision can occur. We describe two cases of neonatal proptosis caused by orbital subperiosteal hematoma highlighting different diagnostic and management approaches, and provide a summary of previously reported cases. Spontaneous resolution occurs in most cases; however, emergent surgical evacuation is warranted in cases of optic nerve compression. This is the first report to provide orbital ultrasound images of uncomplicated neonatal orbital subperiosteal hematoma. Orbital ultrasound followed by magnetic resonance imaging (MRI) is a valid nonradiation approach for assessing neonatal proptosis due to subperiosteal orbital hematoma.