Optic disc morphology and interocular symmetry in children.

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.

Dexamethasone intravitreal implant as an adjuvant treatment for pediatric patients with Coats' disease / Implante intravítreo de dexametasona como tratamento adjuvante em pacientes pediátricos com doença de Coats

ABSTRACT We report two cases of stage 3A unilateral Coats' disease in pediatric patients. In both cases, disease control was achieved using a dexamethasone intravitreal implant in addition to other treatments. The treatment improved visual acuity in one patient and prevented the worsening of the decline in visual acuity in the other patient during follow-up periods of 7 and 3 years, respectively. One of the patients presented an increase in intraocular pressure, which was controlled with topical antiglaucoma medication, but developed a cataract that required surgery. In conclusion, dexamethasone intravitreal implant may be a useful adjuvant treatment to consider in some pediatric cases with Coats' disease.

RESUMO Relatamos dois casos de doença de Coats em estágio 3A unilateral em pacientes pediátricos. Em ambos os casos, o controle da doença foi obtido com implante intravítreo de dexametasona, além de outros tratamentos, com melhora da acuidade visual em um caso e sem piora da visão no outro, durante um período de acompanhamento de 7 e 3 anos. Um dos casos apresentou elevação da pressão intraocular controlada com medicação antiglaucoma tópica e desenvolveu catarata que exigiu cirurgia. Em conclusão, o implante intravítreo de dexametasona pode ser um tratamento adjuvante útil a ser considerado em alguns casos pediátricos com doença de Coats.

Dexamethasone intravitreal implant as an adjuvant treatment for pediatric patients with Coats' disease.

We report two cases of stage 3A unilateral Coats' disease in pediatric patients. In both cases, disease control was achieved using a dexamethasone intravitreal implant in addition to other treatments. The treatment improved visual acuity in one patient and prevented the worsening of the decline in visual acuity in the other patient during follow-up periods of 7 and 3 years, respectively. One of the patients presented an increase in intraocular pressure, which was controlled with topical antiglaucoma medication, but developed a cataract that required surgery. In conclusion, dexamethasone intravitreal implant may be a useful adjuvant treatment to consider in some pediatric cases with Coats' disease.

Alström syndrome: Two clinical cases with two novel pathogenic variants.

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.

Macular thickness variation and interocular symmetry by gestational age in preterm school-age children.

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.

Retinal ganglion cell complex thickness at school-age, prematurity and neonatal stressors.

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.

Contribution of Optical Coherence Tomography to the Diagnosis of Childhood-Onset Stargardt Disease in Its Early Stages.

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.].

Measurement of macular thickness with optical coherence tomography: impact of using a paediatric reference database and analysis of interocular symmetry.

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.

Interobserver reproducibility and interocular symmetry of the macular ganglion cell complex: assessment in healthy children using optical coherence tomography.

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.

Assessment of macular ganglion cell complex using optical coherence tomography: Impact of a paediatric reference database in clinical practice.

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.

Adalimumab for the treatment of refractory noninfectious paediatric uveitis.

To report the experience of our center with the use of adalimumab (ADA) for the treatment of severe refractory noninfectious paediatric uveitis. The study is a retrospective case series of all paediatric patients with refractory uveitis who were treated with ADA at the Paediatric Uveitis Unit of our center from 2008 to 2015. We present 12 patients (6 Juvenile idiopathic arthritis-associated uveitis, 4 idiopathic panuveitis, 1 early-onset sarcoidosis-associated panuveitis, and 1 intermediate uveitis), with uveitis in 19/24 eyes. Once ADA therapy was started, all the patients presented improved activity according to Standardization of Uveitis Nomenclature (SUN) criteria. Nine out of the 12 patients had structural damage before ADA could be started: cataract (n = 4), glaucoma (n = 2), cystic macular edema (n = 1), exudative retinal detachment (n = 1), and optic disk edema (n = 5). Visual acuity improved or maintained stable in 17/19 affected eyes, and only 2 eyes decreased its visual acuity because of structural damage, which was already present before ADA therapy. In our experience, ADA presents a good safety profile and is efficacious in the treatment of paediatric patients with different forms of refractory noninfectious uveitis.