Visual Acuity Outcomes in Children With Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia.

Background: To investigate best-corrected visual acuity (BCVA) outcomes in patients with optic nerve hypoplasia (ONH)/septo-optic-pituitary dysplasia (SOD). Our primary hypothesis was that BCVA in patients with ONH/SOD does not change significantly over time.

Methods: A chart review was undertaken in patients with a confirmed diagnosis of ONH/SOD.

Ophthalmic and Neuroimaging Associations In Optic Nerve Hypoplasia/Septo-Optic-Pituitary Dysplasia.

Background: Optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) are neurodevelopmental disorders associated with congenital visual impairment. Our aim was to investigate associations between several ophthalmic and neuroimaging features in patients with ONH/SOD.

Methods: A retrospective chart and neuroimaging review was performed in patients with ONH/SOD.

Selected Ophthalmological Features in Children with Septo-Optic Dysplasia and Optic Nerve Hypoplasia.

Septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH) cause congenital visual impairment. Their aetiology is mostly unknown. Our aim was to investigate the prevalence of selected ophthalmological features in patients with these disorders.

Longstanding and Refractory Anti-Muscle Specific Tyrosine Kinase Antibody-Associated Myasthenia Gravis (Anti-MuSK-MG) in a Child Successfully Treated with Rituximab.

Anti-muscle specific tyrosine kinase antibody-associated myasthenia gravis (MuSK-MG) is a rare subtype of MG characterized by more frequent relapses and a clinical course that is refractory to standard treatments. Rituximab, a monoclonal antibody targeting CD20+ B cells, has been used effectively in the adult population to achieve stable remission. We describe a pediatric patient with MuSK-MG who demonstrated an excellent response to rituximab after failing standard therapy.

Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis.

Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin crease.

Congenital Oculomotor Nerve Paresis With Isolated Cyclic Pupillary Spasms.

Cyclic oculomotor nerve paresis is a rare and usually congenital disorder. It is characterized by unilateral third nerve paresis with periodic spasms causing eyelid elevation, miosis, and contraction of 1 or more of the extraocular muscles innervated by the third nerve. We report a 20-month-old girl who presented initially with a congenital partial right third nerve paresis without ptosis.