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Inherited retinal disorders now the leading cause of blindness

The recent paper in BMJ Open, from the UCL Institute of Ophthalmology, ‘A comparison of the causes of blindness certifications in England and Wales in working age adults (16-64 years), 1999-2000 with 2009-2010’ concludes that inherited retinal disorders (IRD) such...

Avoiding investigations through history taking and examinations to differentiate serious from comparably benign aetiology

*Joint first authors. Introduction Anisocoria can be a sign of neurological deficit, necessitating numerous investigations [1]. This case report explores how expensive and time-consuming investigations can be avoided by thorough history taking and examination to differentiate serious from comparably benign...

Ophthalmic mentors: Professor Sir Peng Tee Khaw

In the second of our interviews in this series, Eye News speaks to Professor Sir Peng Tee Khaw, Professor of Glaucoma and Ocular Healing, Consultant Ophthalmic Surgeon, Director of the National Institute for Health Research, Biomedical Research Centre at Moorfields...

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%)...

Case report of Leber hereditary optic neuropathy (LHON)

This case report presents a 74-year-old male patient who developed LHON, with a previous diagnosis of bilateral macular holes. LHON occurs predominantly in healthy young men and onset in older age ranges increases the likelihood that the patient will have...

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...

Prognostic factors for visual acuity in patients with LHON after gene therapy

This retrospective study investigates prognostic factors affecting the visual acuity after a single intravitreal injection of rAAV2-ND4 gene therapy in 53 patients with Leber’s hereditary optic neuropathy (LHON) with mutation at site 11 778. Patients were reviewed one and three...

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...