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Molecular genetics of achromatopsia
Achromatopsia is a rare autosomal recessive disorder of the cone photoreceptors. Typical characteristics of affected patients include the inability to distinguish colours, impaired visual acuity, photophobia and nystagmus. The condition is said to be more frequent in the Pingelapese population...
Under pressure: intraocular pressure and bariatric surgery
Obesity in the general patient population is increasing. The National Institute for Health and Care Excellence recommends bariatric surgery with body-mass index (BMI) of over 40, or between 35-40 and other significant disease that could be improved with weight loss....
Is exenteration helpful in invasive fungal sinusitis?
Invasive fungal sinusitis is a potentially lethal disease that causes painful orbital apex syndrome with ophthalmoplegia and visual loss. The mechanism of ophthalmoplegia and visual loss is not clear, and neither is the role of radical surgery-orbital exenteration. The authors...
Review of extraocular muscle biopsies and utility of biopsy in extraocular muscle enlargement
This is a retrospective case series study from Melbourne, Australia, of 93 patients with extraocular muscle (EOM) enlargement who underwent an EOM biopsy between March 1992 and January 2017. Statistical analysis was performed to compare the data between patients with...
Choroidal vascularity in NAION
The authors present a cross-sectional, non-interventional study of healthy volunteers and those with non-arteritic anterior ischaemic optic neuropathy (NAION) recruited over a six-month period at a single site. NAION is the most common cause of acute optic neuropathy over the...
Ablepharon-macrostomia syndrome
The ablepharon-macrostomia syndrome is a very rare condition caused by a dominant mutation in the TWIST2 gene. Congenital defects include rudimentary eyelids, macrostomia, ambiguous genitalia and campodactyly. Neonates are at risk of severe corneal exposure without intervention. Previous reports have...
Risk of CNV related to angioid streaks in PXE
This retrospective cross-sectional study investigated 301 patients with pseudoxanthoma elasticum (PXE) for prevalence of choroidal neovascularisation (CNV) and macular atrophy. Some patients were excluded due to missing or poor-quality imaging or the fact that they didn’t have angioid streaks, leaving...
Why is there subretinal fluid at the macula?
This is a review article looking at the differential diagnosis of subretinal fluid in the macula that could be diagnosed as central serous chorioretinopathy (CSCR). The authors have categorised them into 12 groups: neovascular diseases, vitelliform lesions, inflammatory diseases, ocular...
Prevalence and incidence of uveitis
Uveitis encompasses a group of diseases characterised by the inflammation of fovea uvea which are potentially vision threatening. However, the frequency of this condition is unclear. This systematic review and meta-analysis aimed to provide estimates of the frequency of uveitis...
How a paediatric population presented with diplopia
The authors present the results of a retrospective records review of 244 children presenting with diplopia over a three-year period. The majority of cases presented to paediatric ophthalmology clinic; other routes of presentation included eye casualty, neuro-ophthalmology or another eye...
Risk factors for visual impairment in facial nerve palsy
Facial nerve palsy (FNP) is known to be associated with corneal exposure due to the nature of the condition, but how many of those will go on to develop severe visual impairment (SVI)? This study investigates the risk factors associated...
