RESUMO
PURPOSE: Optical coherence tomography (OCT) software is used to classify abnormality of macular thickness by colour category based on reference data from adult series. We assessed the impact of using paediatric reference thickness values for macular thickness instead of adult reference values. METHODS: Cross-sectional study. Primary and tertiary healthcare setting. Out of 140 healthy participants aged 5 to 18 years, 126 were eligible, 83% from European origin. Following a dilated eye examination and cycloplegic refraction, participants underwent macular scanning with OCT (Topcon 3D OCT-2000). Macular thickness paediatric reference values were recorded by spherical equivalent (SE) and sex, and the specific agreement between paediatric and adult reference values below or equal to percentile 5 and above percentile 95 was estimated. The absolute interocular differences for all macular parameters were determined. RESULTS: Multivariate regression analysis confirmed statistically independent positive associations between SE and average thickness, total volume, and temporal and inferior outer quadrants (all p values ≤ 0.003). The analysis also revealed higher values in males for average thickness, central thickness, and all inner macula quadrants (all p values ≤ 0.039). The use of the adult database only detected 49% of the extreme values (≤ p5 and > p95) in our paediatric sample. The 95th percentile limits for absolute interocular differences for all macular parameters ranged from 12 to 17 µm. CONCLUSIONS: OCT-based macular reference values for paediatric SE and sex improve detection of children with abnormal macular thicknesses. Interocular differences exceeding standard references for macular parameters should be considered for further examinations.
Assuntos
Macula Lutea , Tomografia de Coerência Óptica , Adulto , Biometria , Criança , Estudos Transversais , Humanos , Masculino , Valores de Referência , Refração OcularRESUMO
BACKGROUND: Assessment of interobserver reproducibility and interocular symmetry using optical coherence tomography (OCT)-based measurements of the macular ganglion cell complex (GCC) in healthy children facilitates interpretation of OCT data. We assessed the interobserver reproducibility and interocular symmetry of GCC and evaluated candidate determinants. METHODS: This was a cross-sectional study performed in a primary and tertiary health-care setting. A total of 126 healthy participants aged 5 to 18 years were eligible. GCC scans were performed by 4 operators using the Topcon 3D OCT-2000 device. Intraclass correlation coefficients (ICCs) were used to estimate reproducibility and symmetry. Cut-off points for symmetry were defined as the 95th percentile of the absolute interocular difference for 6 GCC parameters. Percentile distributions of interocular difference were generated based on age and difference in absolute interocular spherical equivalent (SE). RESULTS: The reproducibility ICC ranged from 0.96 to 0.98 for all 6 GCC parameters. Cut-off points for interocular symmetry of the superior and inferior quadrants and total macular retinal nerve fibre layer thickness (mRNFL) and macular ganglion cell layer-inner plexiform layer thickness were 3.5, 4.5, 3.0, 3.0, 2.5, and 2.5 µm respectively. A positive association was observed between the absolute interocular difference of SE and superior and total mRNFL symmetry values (p = 0.047 and p = 0.040, respectively). CONCLUSIONS: OCT measurements of GCC in healthy children show excellent reproducibility. Interocular differences in SE should be assessed when mRNFL differences exceed the 95% cut-off. These findings can contribute to establish reference values for interocular symmetry in paediatric GCC parameters.
Assuntos
Macula Lutea/citologia , Células Ganglionares da Retina/citologia , Tomografia de Coerência Óptica/métodos , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Fibras Nervosas , Variações Dependentes do Observador , Valores de Referência , Reprodutibilidade dos TestesRESUMO
IMPORTANCE: Optical coherence tomography software classifies abnormality of macular ganglion cell-inner plexiform layer thickness and macular retinal nerve fibre layer thickness based on adult series. BACKGROUND: We assessed the impact of using paediatric reference macular ganglion cell complex values instead of adult reference values. DESIGN: Cross-sectional study. Primary and tertiary health-care setting. PARTICIPANTS: Out of 140 healthy participants aged 5 to 18 years, 90% were eligible. METHODS: Following a dilated eye examination and cycloplegic refraction, participants underwent optical coherence tomography ganglion cell scans (Topcon 3D OCT-2000; Topcon Corporation, Tokyo, Japan). Right eye measurements for superior, inferior, and total layer thickness and spherical equivalent were reported, together with age, sex and origin. MAIN OUTCOME MEASURES: Paediatric reference values by age and spherical equivalent were produced, and the specific agreement between paediatric and adult ganglion cell complex reference values below or equal to percentile 5 was estimated. RESULTS: The multivariate analysis confirmed a positive association between spherical equivalent and macular ganglion cell-inner plexiform layer thickness, and between age and macular retinal nerve fibre layer (five out of six regression coefficients P values were ≤ 0.03). Specific agreement was 25% for ganglion cell-inner plexiform layer thickness and > 80% for macular retinal nerve fibre layer. Adult-based software identified low ganglion cell values in one in seven children compared to paediatric reference values (0.8% vs 5.5%, P = 0.031). CONCLUSIONS AND RELEVANCE: The availability of optical coherence tomography ganglion cell complex reference values for paediatric age and spherical equivalent groups can be used to improve detection of children with low cell layer thickness.
Assuntos
Fibras Nervosas , Retina/anatomia & histologia , Células Ganglionares da Retina/citologia , Neurônios Retinianos/citologia , Adolescente , Antropometria , Criança , Pré-Escolar , Estudos Transversais , Bases de Dados Factuais , Feminino , Humanos , Masculino , Valores de Referência , Refração Ocular , Tomografia de Coerência ÓpticaRESUMO
We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations.
Assuntos
Adenosina Trifosfatases/genética , Encefalopatias/genética , Coreia/genética , Deficiência Intelectual/genética , Hipotonia Muscular/genética , Mutação , Atrofia Óptica/genética , Proteínas de Transferência de Fosfolipídeos/genética , Encefalopatias/complicações , Criança , Pré-Escolar , Coreia/complicações , Feminino , Homozigoto , Humanos , Deficiência Intelectual/complicações , Hipotonia Muscular/complicações , Atrofia Óptica/complicações , Linhagem , Síndrome , Sequenciamento do ExomaRESUMO
PURPOSE: The purpose of the study was to obtain a pediatric reference database for optic disc parameters and interocular symmetry. To ascertain factors that modify these parameters (age, spherical equivalent [SE], and sex). METHODS: This was a cross-sectional study. 90 patients aged 5-17 years fulfilled all the inclusion criteria. After a full examination including cycloplegic refraction, all patients underwent optical coherence tomography (OCT) of the papilla using the three-dimensional (3D) scan protocol of the Topcon 3D 2000 OCT device. We provide reference values for optic disc parameters in the pediatric population. We also retrieved interocular symmetry reference values for these parameters. RESULTS: The multivariate regression analysis did not reveal variations in any of the optic disc parameters associated with age, sex, or SE (all P ≥ 0.126). The 95th percentile limit for absolute interocular differences for the cup-to-disc area ratio was 0.24. The multivariate regression analysis revealed the absence of a correlation between asymmetry of the optic disc parameters and age, sex, and the interocular difference in SE (all P ≥ 0.105). CONCLUSION: Pediatric reference databases for optic disc parameters and ranges of normality for interocular symmetry provide key diagnostic support in diseases that affect the optic nerve.
RESUMO
CLINICAL RELEVANCE: The detection of abnormal values of peripapillary nerve fibre layer (pRNFL) thickness measured with optical coherence tomography (OCT) is important for detecting optic nerve disease in children. BACKGROUND: To evaluate the level of agreement between the adult reference database supplied with an OCT device and the present paediatric study database for the measurement of pRNFL thickness in children. This study also aimed to provide reference values for pRNFL thickness according to the spherical equivalent in the paediatric population. METHODS: This was a cross-sectional study. One hundred and twenty-six healthy children were included, who had undergone a full ophthalmological examination including cycloplegic refraction and examination of pRNFL thickness using the Topcon 3D OCT 2000 device (Topcon Corporation, Tokyo, Japan). Values equal to or below the fifth percentile (≤p5) and above the 95th percentile (>p95) were considered abnormal. Observed agreement and specific agreement were investigated between OCT measurements classified with paediatric and adult reference values for normality. RESULTS: Values ≤ p5 in the adult database were recorded for 2 of the 30 values (6.6%) of the pRNFL values by quadrants ≤p5 in the paediatric database and 17 of the 88 (19.3%) values by sectors ≤p5. For values >p95 in the adult database, 88% by quadrants and 72% by sectors would have been classified as being within the normal range using the paediatric database. CONCLUSION: The use of adult reference values currently available in OCT devices can lead to classification errors concerning the normal range of pRNFL thickness in a large proportion of paediatric patients. The use of normative paediatric databases, such as the one discussed in this study, should be taken into consideration.
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PURPOSE: To report two clinical cases of Alström syndrome (AS) with novel pathogenic variant of the ALMS1 gene not previously reported. CASE DESCRIPTION: Patient 1 was a 6-year-old female presenting with poor vision. Ophthalmic examination only showed a visual field (VF) with diffusely decreased sensitivity in both eyes. At age of 15, vision and ophthalmic examination remain stable. Patient 2 was a 2-year-old male with poor vision, photophobia, and nystagmus. ERG showed a severe decrease in cone and rod responses. At age of 6, his vision is lower than 0.1 (decimal scale) and VF is severely constricted. Both of them presented with dilated cardiomyopathy in their first's months of life and patient 2 developed sensorineural deafness along with follow-up. Research genetic testing revealed two loss-of-function heterozygous genetic variants in the ALMS1 gene in both patients, so the diagnosis of AS was made. CONCLUSIONS: AS is a rare disease caused by pathogenic variants of ALMS1 gene that causes ocular manifestations in almost 100% of patients. There are many genetic variants of AMLS1 described, but novel pathogenic variants can still be found. Ophthalmologists play an important role in the diagnosis, and AS should be included in the differential diagnosis when retinal dystrophy is suspected.
Assuntos
Síndrome de Alstrom , Perda Auditiva Neurossensorial , Masculino , Feminino , Humanos , Criança , Pré-Escolar , Síndrome de Alstrom/diagnóstico , Síndrome de Alstrom/genética , Proteínas de Ciclo Celular/genética , Mutação , Testes Genéticos , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genéticaRESUMO
BACKGROUND: Increasingly, neonatal clinics seek to minimize painful experiences and stress for premature infants. Fundoscopy performed with a binocular indirect ophthalmoscope is the reference examination technique for screening of retinopathy of prematurity (ROP), and it is associated with pain and stress. Wide-field digital retinal imaging is a recent technique that should be evaluated for minimizing infant pain and stress. METHODS: The purpose of the study was to assess and compare the impact of using a binocular indirect ophthalmoscope (BIO), or wide-field digital retinal imaging (WFDRI) on pain and stress in infants undergoing ROP screening examination. This was a comparative evaluation study of two screening procedures. Ophthalmologic examinations (N = 70) were performed on 24 infants with both BIO and WFDRI. Pain assessments were performed with two specific neonatal scales (Crying, requires oxygen, increased vital signs, expression and sleeplessness, CRIES and, Premature infant pain profile, PIPP) just prior to the examination, and 30 seconds, 1 hour, and 24 hours later after ending the examination. RESULTS: Changes over time were significantly different between BIO and WFDRI with both scales (PIPP score, p = .007, and CRIES score, p = .001). Median PIPP score (interquartile interval) at baseline was 4 (3-5). At 30 seconds the score was 8 (6-9) for BIO and 6 (5-7) for WFDRI, respectively. The increase in PIPP score between baseline and 30 seconds was significantly lower with WFDRI (p = .006). The median increase in CRIES score from baseline to 30 seconds was 1 point lower for WFDRI than for BIO (p < .001). No significant difference in response remained at 1 hour or 24 hour assessments. CONCLUSIONS: A transient short-term pain and stress response occurs with both BIO and WFDRI. Infants examined for screening of ROP with digital retinal imaging present less pain and stress at 30 seconds following completion of the exam when compared with binocular indirect ophthalmoscopy.
Assuntos
Triagem Neonatal/efeitos adversos , Oftalmoscopia/efeitos adversos , Dor/etiologia , Retinopatia da Prematuridade/diagnóstico , Estresse Fisiológico , Diagnóstico por Imagem/efeitos adversos , Diagnóstico por Imagem/métodos , Feminino , Humanos , Recém-Nascido , Masculino , Oftalmoscopia/métodos , Medição da DorRESUMO
PURPOSE: To investigate the association between the ganglion cell complex (GCC) thickness at early school-age and prematurity and other neonatal factors. METHODS: Cross-sectional study. The sample included very preterm children with gestational age (GA) below 32 weeks or birthweight below 1500 g enrolled in a follow-up program (n = 101) and a comparison group of term-born children (n = 49). Ganglion cell complex (GCC) thickness was measured at 4-8 years using high-quality optical coherence tomography (OCT) images. Data on neonatal and postnatal features were extracted from clinical records; analyses included mixed linear models. RESULTS: Ganglion cell layer (GCL) and retinal nerve fiber layer (mRNFL) were thicker in term than in preterm born children (2.9 µm and 2.4 µm respectively, p < 0.001). Within the preterm group, lower GA was associated with a decrease in total GCL (0.7 µm per week, p < 0.001). Being small for GA was associated with further thinning in both layers (1.4 and 2.8 µm). Postnatal corticosteroids therapy and severe brain lesion were associated with thinning in the total GCL of 6 µm (p < 0.001) and 4.1 µm (p = 0.002), respectively, and shock was associated with thinning in total mRNFL of 6 µm (p < 0.001). CONCLUSIONS: Lower GA or birthweight are associated with thinning of GCC layers. When performing an OCT examination at school-age and a decrease in GCC thickness is observed, it may be relevant to ask about a history of prematurity, and further enquire about neonatal shock, postnatal corticosteroids therapy or severe brain lesion that are related to additional decrease in GCC thickness.
Assuntos
Macula Lutea , Células Ganglionares da Retina , Corticosteroides , Peso ao Nascer , Criança , Estudos Transversais , Humanos , Lactente , Recém-Nascido , Recém-Nascido de muito Baixo Peso , Macula Lutea/patologia , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica/métodosRESUMO
PURPOSE: To determine changes in macular thickness profile according to gestational age (GA) and to assess interocular symmetry in the macula of children born very preterm. METHODS: In this cross-sectional study of preterm (n = 106) and term-born (n = 49) children 5-8 years of age at time of examination, optical coherence tomography was used to measure macula thickness as described in the ETDRS study. Statistical analyses included stratified and multivariable analyses. RESULTS: Foveal minimum thickness increased with decreasing GA (P for trend, <0.001; 254.7 ± 32.8 µm for children born at 24-25 weeks and 193.2 ± 32.8 µm in term-born children). Inner and outer area thickness differed for term and preterm children, but did not vary with the degree of prematurity (inner area, 267.0 ± 11.0 µm for 24-25 weeks' GA and 305.4 ± 11.8 µm for term children [P < 0.01]; outer ring, 305.5 ± 10.4 µm in extreme preterm and 271.0 ± 10.4 µm in term children [P < 0.01]). Interocular asymmetry in preterm children was not significant for most areas; the largest interocular difference was found in the central zone (16.3 ±16.6 µm). CONCLUSIONS: In our study cohort, children born very preterm examined at school age compared to term born children had greater central thickness with decreased foveal pit, decreased inner ring, and increased thickness of the outer ring. They did not show greater interocular asymmetry.
Assuntos
Macula Lutea , Recém-Nascido , Humanos , Idade Gestacional , Estudos Transversais , Acuidade Visual , Fóvea Central , Tomografia de Coerência Óptica/métodosAssuntos
Neovascularização de Coroide/etiologia , Oftalmopatias Hereditárias/complicações , Degeneração Retiniana/complicações , Doenças Retinianas/etiologia , Vasos Retinianos/patologia , Transtornos da Visão/complicações , Adolescente , Neovascularização de Coroide/diagnóstico , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Feminino , Humanos , Mutação , Imagem Óptica , Receptores Nucleares Órfãos/genética , Degeneração Retiniana/diagnóstico , Degeneração Retiniana/genética , Doenças Retinianas/diagnóstico , Retinosquise/diagnóstico , Tomografia de Coerência Óptica , Transtornos da Visão/diagnóstico , Transtornos da Visão/genéticaAssuntos
Doenças dos Nervos Cranianos/genética , Mosaicismo , Mutação , Proteína Adaptadora de Sinalização NOD2/genética , Sinovite/genética , Uveíte/genética , Adolescente , Artrite , Doenças dos Nervos Cranianos/diagnóstico , Doenças dos Nervos Cranianos/patologia , Éxons , Feminino , Expressão Gênica , Humanos , Linhagem , Sarcoidose , Sinovite/diagnóstico , Sinovite/patologia , Uveíte/diagnóstico , Uveíte/patologiaRESUMO
Stargardt disease may present with alterations in optical coherence tomography before symptoms and fundus abnormalities appear. With this non-invasive test, a presumptive diagnosis can be made and genetically confirmed in the subclinical stages of the disease. [J Pediatr Ophthalmol Strabismus. 2021;58(3):e5-e8.].
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Tomografia de Coerência Óptica , Angiofluoresceinografia , Fundo de Olho , Humanos , Oftalmoscopia , Doença de StargardtRESUMO
The most frequent ophthalmic lesions associated to neurofibromatosis type 1 include iris Lisch nodules, optic nerve gliomas, and neurofibromas located on the eyelid, conjunctiva or orbit. Glaucoma is much less frequent, and it may be difficult to diagnose and treat. We present two patients with neurofibromatosis type 1 and associated congenital glaucoma. In case 1, the glaucoma was present at birth, and was the first symptom of the disease. It was surgically treated by means of an Ahmed glaucoma valve implantation, with good intraocular pressure (IOP) control after 13 months of follow-up. In case 2, the glaucoma appeared at 5 months old, and a trabeculectomy was initially performed; it failed 2 years later and an Ahmed glaucoma valve was then implanted, with adequate IOP control after 7 years of follow-up. Both children were males, and in both cases there were orbital neurofibromas and a dysplasia of the greater wing of the sphenoid of the same side. In case 2, orbital enlargement surgery was also performed at 4 years old. Congenital glaucoma management in the context of neurofibromatosis is very complex due to the frequent association of orbital and eyelid tumors and bone dysplasia, and its prognosis is usually poor. We present two cases in which good control of IOP has been achieved with Ahmed glaucoma valve implantation after 13 months and 7 years of follow-up.
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Glaucoma/complicações , Glaucoma/cirurgia , Neurofibromatose 1/complicações , Neoplasias Orbitárias/complicações , Doenças do Desenvolvimento Ósseo/etiologia , Pré-Escolar , Glaucoma/congênito , Implantes para Drenagem de Glaucoma , Humanos , Lactente , Recém-Nascido , Pressão Intraocular , Masculino , Procedimentos Cirúrgicos Oftalmológicos , Implantação de Prótese , Osso Esfenoide/patologia , Resultado do TratamentoRESUMO
Orbital subperiosteal hemorrhage is rare, with most cases occurring in young males as a result of direct facial or orbital trauma. The authors present a case of a spontaneous subperiosteal hematoma of the orbit in a 4-year-old girl.
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Hematoma/diagnóstico , Doenças Orbitárias/diagnóstico , Periósteo , Pré-Escolar , Drenagem/métodos , Feminino , Hematoma/cirurgia , Humanos , Imageamento por Ressonância Magnética , Doenças Orbitárias/cirurgia , Tomografia Computadorizada por Raios XRESUMO
Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.
La incontinencia pigmenti es un trastorno neurocutàneo raro, con una frecuencia de 1 en 40 000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG, localizado en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal y puede asociar afectación cutànea, dental, ocular y neurológica, y cada una de estas con un diagnóstico diferencial distinto. Se presenta a una paciente pediàtrica con diagnóstico de incontinencia pigmenti a la semana de vida. En la evaluación oftalmológica inicial, se observaron lesiones vasculares retinianas. Se decidió el tratamiento con làser, con buenos resultados, y se consiguió estabilizar la visión.
Assuntos
Incontinência Pigmentar/complicações , Terapia a Laser/métodos , Doenças Retinianas/terapia , Diagnóstico Diferencial , Feminino , Humanos , Incontinência Pigmentar/diagnóstico , Recém-Nascido , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Resultado do TratamentoRESUMO
La incontinencia pigmenti es un trastorno neurocutàneo raro, con una frecuencia de 1 en 40 000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG, localizado en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal y puede asociar afectación cutànea, dental, ocular y neurológica, y cada una de estas con un diagnóstico diferencial distinto. Se presenta a una paciente pediàtrica con diagnóstico de incontinencia pigmenti a la semana de vida. En la evaluación oftalmológica inicial, se observaron lesiones vasculares retinianas. Se decidió el tratamiento con làser, con buenos resultados, y se consiguió estabilizar la visión.
Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.