Values of peripapillary retinal nerve fibre layer thickness are different in children and adults.

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.

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.

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.

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.

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).

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. .

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.

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.

[Laser therapy in ocular involvement after diagnosis of incontinentia pigmenti in a child].

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.

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.

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

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.

Pain and stress assessment after retinopathy of prematurity screening examination: indirect ophthalmoscopy versus digital retinal imaging.

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.

Spontaneous subperiosteal hematoma of the orbit.

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.

Management of congenital glaucoma in neurofibromatosis type 1: a report of two cases.

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.