Optic Atrophy and Inner Retinal Thinning in -related Congenital Stationary Night Blindness.

Hemizygous pathogenic variants in lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited knowledge of higher-order neuronal changes (inner retinal) in this disorder. This study aimed to investigate inner retinal changes in -retinopathy by analyzing macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness and optic disc pallor in 22 subjects with molecularly confirmed -retinopathy.

Long-term follow-up of torsional augmentation surgery in a case of congenital ocular tilt reaction with head tilt.

Torsional augmentation surgery was used to correct the anomalous head position (AHP) in a child with congenital ocular tilt reaction (OTR). The underlying neuropathology was hypoplasia involving the right hemicerebellum and contralateral brainstem. Postoperatively there was an acceptable and variable resolution of head tilt sustained over a 25-year follow-up period.

VIGABATRIN TOXICITY IN INFANCY IS ASSOCIATED WITH RETINAL DEFECT IN ADOLESCENCE: A Prospective Observational Study.

Purpose: The purpose was to determine whether vigabatrin (VGB) (Sabril)-attributed retinal toxicity defined by electroretinogram in early childhood is associated with visual system defect in adolescents after discontinuation of VGB.

Methods: This prospective cross-sectional study included 24 children previously treated with VGB and monitored in early childhood by electroretinogram for VGB-attributed retinal defects. Ten had been diagnosed with VGB-attributed retinal defect (Group I) and 14 had no VGB-attributed retinal defect (Group II).

Measuring recovery of visual function in children with papilledema using sweep visual evoked potentials.

Purpose: To assess visual function in children with papilledema using sweep visual evoked potentials (VEP) to determine whether vision function improved following treatment.

Methods: Contrast sensitivity and grating acuity were prospectively measured by using sweep visual evoked potential testing in children with mild or moderate acute papilledema. A subset of children were tested longitudinally before and after treatment.