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The results of the last survey Dec24
This edition’s survey results are fascinating. They focus more on your impressions and views rather than on the facts of your clinical practice. Effectively I asked you to take the role of an expert and comment on the cases I...
Exposure to atomic bomb radiation and age-related macular degeneration in later life
This paper is one of the outcomes of the Adult Health Study; a cohort study of the atomic bomb survivors of Hiroshima-Nagasaki in Japan. It investigates the proposed association between pasty radiation exposure early in life and the presence of...
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...
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...
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...Strengthening diabetic retinopathy services in Nigeria through DR-NET – from grass roots to national policy development
This is the third article in a series (see Part 1 and Part 2) reflecting on how shared learning via networks of UK and international eye health professionals is contributing to reducing unnecessary blindness in Nigeria. Earlier articles focused on...
