You searched for "rare"
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...
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...
Profile of sympathetic ophthalmia (SO)
The authors undertook this study to examine the clinical profile of patients aged <18 years with SO over the past 20 years. This was a hospital-based retrospective study from 1997 to 2017. SO is a diagnosis of bilateral panuveitis following...
Surgery to collapse V exo
This paper describes a case report of an extra-large V pattern measuring >60PD and the surgery required to collapse the pattern. The patient was a female aged 20 years. Angle measurements were 70PD at distance and 75PD at near in...
Sebaceous gland carcinoma
This is a review of 241 patients diagnosed with periocular sebaceous gland carcinoma which investigates whether age at presentation influences either the clinical presentation or the outcomes of treatment. Twelve percent of patients were classified as young (<40 years old),...
A retrospective medical notes review in patients with poor vision due to NAION
Very severe visual loss (hand movements or less) is typical of arteritic anterior ischaemic optic neuropathy (AION) and relatively rare in non-arteritic AION (NAION). This study aimed to report the frequency of very poor visual acuity (VA) in NAION. The...
A case presentation of morning glory disc anomaly and peripapillary staphyloma
The purpose of this paper is to present a case of an 18-month-old girl initially presenting with strabismus. Fixation of the affected eye was intermittent with a relative afferent pupillary defect. A fundus photography of the affected left eye showed...
Ocular adnexal mantle cell lymphoma
In this study the authors compare primary ocular adnexal (OA) mantle cell lymphoma (MCL) with initially systemic MCL occurring over a 30-year period. MCL is a rare form of lymphoma accounting for 5-11% of OA lymphomas and therefore knowledge of...
Lacrimal drainage system malignancies
This retrospective case series looks at the rare cases of lacrimal drainage system malignancies. The authors have identified 14 patients in 24 years, at a tertiary referral centre in the Indian subcontinent. Many previous publications have found squamous cell carcinoma...
Narrative review of opsoclonus myoclonus ataxia syndrome following COVID-19
Opsoclonus myoclonus syndrome (OMS) / opsoclonus myoclonus ataxia syndrome (OMAS) is a rare central nervous system manifestation of COVID-19, but an increasing number of articles have reported patients in whom COVID-19 was complicated by OMS / OMAS. This narrative review...
