PURPOSE To establish normative magnetic resonance diffusion tensor imaging (MRDTI) data in the pediatric optic nerve and compare to pathologic conditions both intrinsic and extrinsic to the anterior optic nerve pathway. MATERIALS AND METHODS A retrospective analysis of MRDTI at 3.0T in children ages 0-18 with both normal imaging studies and with pathologic conditions either arising from the o...

Septo-optic dysplasia (SOD) or Morsier syndrome is a rare congenital malformation of infantile neurodevelopment with systemic anatomical and functional involvement. It characterized by optic nerve hypoplasia, midline brain malformation, hypothalamic-pituitary axis hypoplasia. The spectrum clinical manifestations very wide, from ophthalmological problems to endocrinological disorders that determ...

We validate specific binding activity of a fluorescence-labeled peptide to colorectal dysplasia in living mice using a miniature, flexible, fiber microendoscope that passes through the instrument channel of an endoscope. The microendoscope delivers excitation light at 473 nm through a fiber-optic bundle with outer diameter of 680 µm to collect en face images at 10 Hz with 4 µm lateral resolutio...

INTRODUCTION Fibrous dysplasia is a benign tumour of the bones and is a disease of unknown aetiology. This report discusses a case of proptosis and visual deterioration with associated bony mass involving the right orbit. CASE PRESENTATION A 32-year-old Nigerian man of Yoruba ethnic origin presented to the eye clinic of our hospital with right-eye proptosis and visual deterioration of 7-year ...

Blindness attributed to vitamin A deficiency afflicted 47 out of 197, and 15 out of 29 new-born dairy calves on 2 farms. Other clinical signs included doming of the forehead, thickening of the carpal joints, incoordination and weakness. Gross lesions in 8 of the calves examined consisted in hydrocephalus and thickened occipital and sphenoid bones. In 4 of these calves the optic nerves were cons...

OBJECTIVE To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism. METHODS All patients underwent complete ophthalmological and endocrinological evaluation at the Pediatric Endocrine Clinics, King Faisal Specialist Hospital and Research Center and King Fahad National...

The congenital malformation known as optic nerve hypoplasia (ONH) has been recognized in the past 30 years as an epidemic cause of congenital blindness. It was believed to occur either as an isolated anomaly or as a component of the syndrome of septo-optic dysplasia, which has evolved to include midline brain malformations and hypopituitarism. Evidence now suggests that ONH infrequently occurs ...

Introduction We describe a newborn female infant with septo-optic dysplasia (SOD) presenting with bilateral dilated and fixed pupils. Conclusion Our report is unique because the incidental finding of bilateral dilated and fixed pupils on the newborn exam was the only clinical finding which led to a prompt work-up and eventual diagnosis of SOD.

Septo-optic dysplasia (SOD) is a rare condition for which the precise etiology is still unclear. Elucidating the genetic component of SOD is a difficult but necessary task for the future. We describe herein a novel HESX1 c.475C>T (p.R159W) mutation and demonstrate its potential pathogenicity in the development of this rare disease.