You searched for "dystrophy"
Vici syndrome
Vici syndrome is a condition associated with agenesis of the corpus callosum, congenital cataract, incomplete albinism, ± immunodeficiency and cardiomyopathy. Individuals show profound hypotony and severe neuro abnormalities. This paper reports a case of Vici syndrome. A 38-month-old female had...
CFEOM outcomes
This study presents the orbital and cranial magnetic resonance imaging (MRI) findings of patients diagnosed with congenital fibrosis of the extraocular muscles (CFEOM) along with the surgical procedures and outcomes for ocular motility and strabismus. Nine patients are described: three...
Complement factor B polymorphism and the phenotype of early age-related macular degeneration
The relationship between complement factor H (CFH) and age-related macular degeneration (AMD) is very well known, but other genetic polymorphisms relating to AMD are more poorly understood. This study was designed to investigate the relationship between complement factor B (CFB)...
A retrospective study of the use of Dermis Fat Grafts for orbital volume augmentation
The authors describe the outcomes of 173 primary Dermis Fat Grafts (DFGs) and 66 secondary DFGs. Median follow-up for the primary group was 21.5 months and 14 months for the secondary group. Outcome measures included: prosthesis motility, prosthesis fit, patient...
Visual outcomes, visual fields and optical coherence tomography in paediatric craniopharyngioma
This study reviews the visual outcomes of ten patients under the age of 18 years with craniopharyngioma. The paper also reviews the correlation between visual field (VF) testing and optical coherence tomography (OCT) examination and evaluates the role of OCT...
Viral uveitis
This review covers viral causes of anterior uveitis. A viral aetiology should be suspected when anterior uveitis is accompanied by ocular hypertension, diffuse stellate keratic precipitates or the presence of iris atrophy. Most common viruses associated are herpes simplex, varicella-zoster...
HSCT treatment outcomes for osteopetrosis
The purpose of this study was to objectively analyse changes in the optic canal opening and conductibility of the optic nerve following allogenic hematopoietic stem cell transplantation (HSCT) in patients with osteopetrosis. 3D CT imaging was used along with visual...
Orbital cellulitis outcomes for children
This paper discusses the clinical profile and multidisciplinary team (MDT) management outcomes in children treated for paediatric orbital cellulitis. This was a prospective study of 40 children with a mean age of 7.5 years (4-12). Unilateral orbital cellulitis cases had...
Could midbrain volume on MRI be used to guide diagnosis of progressive supranuclear palsy?
The authors present a cohort study, of patients with a likely diagnosis of progressive supranuclear palsy (PSP) using a combination of prospective assessment and retrospective review. The cohort comprised of 14 patients; the data for six patients was obtained through...
Eye disorders occurring in congenital CMV
The aim of this study was to examine the relationship between congenital cytomegalovirus (CMV) infection and ophthalmological disorders that occur in children and record the frequency and type of eye disorders that occur from the infection. Of 449 potential studies,...
Progression of macular atrophy in Stargardt disease
The authors present a study of a cohort of patients with genetically proven ABCA4 gene mutation related Stargardt disease. They aimed to quantify the effect of lesion location and topography on disease progression using fundus autofluorescence imaging. One hundred and...
