You searched for "genetic"
EP in a case of abducens nerve palsy
Ecchordosis physaliphora (EP) is a rare non-malignant mass that originates from remains of the notochord and is typically asymptomatic. Symptomatic cases are extremely rare, and the majority are managed by surgical resection. This case study reports a 42-year-old male who...
A case of ipsilateral fourth nerve paresis and Horner’s syndrome
The author presents a single case report of an exceptional association between fourth nerve palsy and ipsilateral Horner’s Syndrome. The case is presented alongside magnetic resonance images (MRI) which reveal a mass in the right cavernous sinus. The 54-year-old woman...
Link between compression of anterior visual pathway structures and visual deficit
The compression of anterior visual pathway (AVP) structures can be observed on neuroimaging. It is not clear whether or not this compression results in damage to these structures. The authors present a single centre retrospective case record review over the...
Investigating MOG-IgG as a cause for optic perineuritis
Optic perineuritis can be a manifestation of infectious and systemic inflammatory disorders, but in most cases is considered idiopathic. Diagnosis is established by magnetic resonance imaging (MRI) with the demonstration of optic nerve sheath enhancement with sparing of the optic...
A novel presentation of optic disc oedema with syphilis
Optic disc oedema (ODE) due to syphilis without visual compromise has been primarily attributed to papilloedema from raised intracranial pressure or optic perineuritis from optic nerve sheath inflammation. These terms were proposed before magnetic resonance imaging (MRI) was largely available....
Saccadic eye movements in young-onset Parkinson’s disease
The objective of this study was to understand control of saccadic eye movements in patients with young onset Parkinson’s disease (YOPD) where onset of disease symptoms appears early in life (<40 years of age). Functional magnetic resonance imaging (fMRI) was...
A case study of posterior globe flattening in idiopathic intracranial hypertension
The authors present a single case of posterior globe flattening without papilloedema in idiopathic intracranial hypertension. The case was a 64-year-old woman with a one-year history of transient visual loss in her left eye only. Visual acuity was 20/20 in...
Effects of idiopathic intracranial hypertension on the optic nerves
The authors review the latest evidence regarding how the optic nerves are affected by idiopathic intracranial hypertension (IIH), possible pathophysiology and methods of assessment. IIH is described as a clinical syndrome of raised intracranial pressure of unknown aetiology. A systematic...
Predicting visual prognosis of patients with methanol poisoning
Symptoms of methanol poisoning often occur 12–24 hours after oral consumption, and visual symptoms are seen in approximately 50% of cases. This study aims to investigate the role of optic nerve diffusion status on cranio-orbital magnetic resonance imaging (MRI) in...
Diagnostic yield of routine metastatic work-up in conjunctival melanoma
Conjunctival melanoma (CM) is a rare but potentially aggressive malignancy of the ocular surface with high rates of local recurrence and metastasis. Eighty-one consecutive patients with invasive conjunctival melanoma treated by the senior author over the course of 23 years...Psychiatric Consequences of Ophthalmic Disease
In part two of this series on ophthalmology and psychiatry, the authors will cover the possible psychiatric consequences of ophthalmic disease. The following conditions will be discussed: a. Black patch psychosis b. Psychological state in blindness c. Phobias in the...
