Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO) syndrome is a rare, apparently autosomal recessive condition in which characteristic dysmorphic features are ...

The patient, 2 1/3 years old, first came to our attention at age 16 months. He is the only child of young, healthy, nonconsanguineous parents and was born at term after a normal pregnancy. The ...

Advancium Health Network, a public charity dedicated to advancing therapies for rare diseases, has awarded two major grants ...

Optic atrophy is a condition in which the optic nerve tissues had developed normally and either are damaged and/or degenerate secondarily. To date, variants in genes involved in transcription ...

It has been speculated that first presentation of disease with cranial nerve involvement – except for optic neuritis – may be associated with milder progression. Aim: This study compares the clinical ...

ABSTRACT: Aim: This study is aimed at describing the socio-demographic characteristics and ocular status of participants at a screening programme during the World Glaucoma Week in Benghazi Teaching ...

An 8-year-old boy from Malaysia has gone permanently blind after surviving for years on a severely limited diet of chicken ...

Aim: To evaluate the utility of measuring the optic nerve sheath diameter in children with shunted hydrocephalus, suspected of having raised intracranial pressure. Methods: 23 children with shunted ...

The total number and dimensions of these nerve fibres have been measured with the aid of electron microscopy in conjunction with light microscopy.

Aim: To investigate the correlation between retinal nerve fibre layer (RNFL) thickness and optic nerve head (ONH) size in normal white subjects by means of optical coherence tomography (OCT). Methods: ...

Drusen deposits are small buildups of proteins, lipids, and calcium salts in the retina, a membrane layer in it, and sometimes the optic nerve. Small deposits are common with age and not ... Vakharia ...