Agreement and Repeatability of Noncycloplegic and Cycloplegic Wavefront-based Autorefraction in Children.

Significance: Increasing prevalence of refractive error requires assessment of ametropia as a screening tool in children. If cycloplegia is not an option, knowledge about the increase in uncertainty for wavefront-based autorefraction is needed. The cycloplegic agent as the principal variant presents cross-reference and allows for extraction of the influence of accommodation.

[Optic Disc Changes in Childhood].

The ophthalmological inspection of the optic disc is possible since the time of birth. Thereby, changes of normal optic disc configuration can already be detected in early infancy. Congenital optic disc anomalies can go along with congenital malformations of the brain or with syndromal systemic diseases.

[Anti-Myelin Oligodendrocyte Glycoprotein Antibodies in Paediatric Patients with Optic Neuritis].

Myelin oligodendrocyte glycoprotein (MOG) is located on the surface of oligodendrocytes and myelin in the central nervous system. MOG-IgG is associated with acute disseminated encephalomyelitis (ADEM), relapsing and bilateral optic neuritis (NNO), and transverse myelitis (TM) in both paediatric and adult patients. The combination of NNO and TM or other inflammatory brain lesions is a typical feature of neuromyelitis optica spectrum disorders (NMO-SD) which are associated with specific pathogenic autoantibodies against the water channel aquaporin-4 (AQP4-IgG).

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Background: Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or atypical phenotypes.