You searched for "dystrophy"
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,...
Associations of esotropia with shunts
This study explored the characteristics and outcomes of children with esotropia and ventriculo-peritoneal (VP) shunt placement due to hydrocephalus. The authors conducted a retrospective study of 16 patients (nine female, seven male) aged three months to 5.6 years (mean 17...
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...
Risk factors for NTG in a young Korean population
Previously known ocular and systemic risk factors for normal tension glaucoma (NTG) include myopia, peripapillary atrophy, disc haemorrhage, migraine, obstructive sleep apnoea, thyroid disease and cerebral infarction. However, most NTG risk factor studies have examined patients aged 40 years and...
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...
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...2024
Welcome to our Spring Special of 2024! The year is well underway and I can feel change is in the air. It’s the Chinese year of the dragon, generally regarded as a good sign, plus it’s 40 years on from...
Neurofibromatosis type 1 features
The aim in this study was to identify the incidence and de nova mutation rate of Neurofibramatosis type 1 (NF1) and describe the ocular and non-ocular findings in a population-based cohort of patients diagnosed over a 30-year period. The study...
