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Genetic analysis of choroideremia families
Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...
A case of progressive supranuclear palsy-like syndrome following aortic aneurysm repair
This original article illustrates the case of an 18-year-old woman who developed progressive supranuclear palsy-like syndrome following an uneventful aortic aneurysm repair. The patient was unaffected for the first 48 hours after surgery and then developed dysarthria, dysphagia (requiring a...
Review of paediatric infectious endophthalmitis
This paper presents a review on paediatric infectious endophthalmitis and considers aetiology, prognosis and management. Classification included exogenous and endogenous. Diagnosis was based on presenting history, signs and symptoms, cultures and imaging. Exogenous cases included postoperative endophthalmitis (strabismus surgery, glaucoma...
A tarso-conjunctival flap for paralytic ectropion
This is a review of 110 patients with paralytic ectropion who underwent a lateral tarso-conjunctival flap procedure. The technique involves fashioning a 4-8mm wide lateral tarso-conjunctival flap in a similar way to a lateral Hughes flap. This is then sutured...
The presentation of natural killer / T cell lymphoma to the oculoplastic surgeon
The authors present three cases of periorbital extranodal natural killer / T cell lymphoma (ENKL). Ages were 20, 45 and 55. All of these patients presented with painless eyelid swelling and a history of sinus disease. One patient had persistent...
The prevalence of macular cysts in patients with clinical cone-rod dystrophy determined by spectral domain optical coherence tomography
Cone-rod dystrophy is a progressive photoreceptor disorder which has multiple inheritance patterns. It is rare, with a prevalence of 1 in 40,000. Macular cysts are well recognised in other photoreceptor conditions such as retinitis pigments and choroideraemia, while they are...
An unusual case of sellar chondroma
A single case of chondrogenic neoplasm arising from the base of the skull is presented and discussed. These benign and slow growing tumours in the sellar region are extremely rare and as such this article provides a useful insight and...
An unusual case report of bilateral abducens paralysis
In this case report a nine-year-old girl develops bilateral abducens nerve paralysis, caused by vertebrobasilar dolichoectasia. Vertebrobasilar dolichoectasia is characterised by dilation, tortuosity and marked elongation of the vertebral and basilar arteries. Clinical findings result from the compression and displacement...
Ointment related granulomas post-blepharoplasty
This is a retrospective review of eight patients who developed granulomatous masses after lower lid blepharoplasty. All patients had sutureless bilateral trans-conjunctival surgery, and lubricating ointment was instilled into the inferior fornix postoperatively for two days. Painless lower lid masses...
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...
Ocular manifestation of Marfan Syndrome
This repeated cross-sectional study collected data in 2003-2004 and 2014-2015 to investigate changes in ocular features in Marfan syndrome (MFS) fulfilling the Ghent-2 criteria. Ghent-2 is a set of criteria by which MFS are identified and includes aortic root aneurysm...
