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A rare neonatal presentation of bilateral dacryocele and choanal atresia
Following a routine pregnancy, a newly delivered baby boy, born at term, was found to have increased work of breathing, stridor and a left medial canthal swelling. The baby required 100% oxygen via a face mask to maintain oxygen saturations....PACK-crosslinking for infectious keratitis
Corneal cross-linking with riboflavin and UV-A light (CXL) is a technology that has been initially developed to treat corneal ectatic disorders [1]. Its effect in stabilising diseases such as keratoconus was reported in numerous trials with excellent long-term outcomes and...An eye on novel anti-cancer agents: an evidence-based approach to external eye assessment
Novel anti-cancer therapies have led to significant advancement in cancer treatment, however, they can be associated with external eye complications. It is important to be mindful of such adverse effects during assessment of patients enrolled in clinical trials. Annually, approximately...
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...
Surgical results in spinocerebellar ataxia (SCA)
Patients with SCA frequently develop ocular motility abnormalities including nystagmus, abnormal smooth pursuits, dysmetric saccades, divergence paresis and ophthalmoplegia. Incidence of diplopia is higher in SCA type 3. The purpose of this study was to evaluate surgical responses and outcomes...
Online retinoblastoma surveillance tool
Given the vision and life-threatening course of retinoblastoma (RB), it has become a significant heritable childhood cancer to screen for. To recommend surveillance, risk must be estimated and genetic testing plays a vital role. However, genetic tests vary based on...
Primary intravenous chemotherapy (IVC) for Group D retinoblastoma
A retrospective review is reported of 64 group D retinoblastoma (RB) eyes (52 patients) treated with primary IVC, between 2002 and 2014 from two centres, in the UK and US. The median age at presentation was 11 months, 35 (67%)...
Familial Mediterranean Fever and keratoconus
This retrospective case control study was conducted in the Genetic Diagnostic Centre in Turkey. It examined the prevalence of keratoconus in two groups; patients with Familial Mediterranean Fever (FMF) and age matched controls free of FMF, who were tested for...
Features of branchio-oculo-facial syndrome
Branchio-oculo-facial (BOF) syndrome is an autosomal dominant inherited syndrome that typically presents with branchial cleft sinus defects, ocular anomalies and dysmorphic facial appearance. The authors present a new case alongside the results of a literature review describing the common genetic...
