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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...

Macular pigment and dark adaptation in older population with normal maculas

Macular pigment (MP) such as lutein, zeaxanthin and meso-zeaxanthin are highly concentrated in the fovea. They protect the retina from damage of ambient blue light via antioxidant properties. In older eyes with normal healthy retina, macular pigment optical density (MPOD)...

Knobby eye syndrome

This study used high resolution MRI to demonstrate and evaluate globe shape in axial high myopia and identify and characterise those with prominent equatorial staphylomata that deflect extraocular muscle paths and presumably alter motility patterns in strabismus. The study included...

Where along the vergence pathway is affected by Parkinson’s Disease?

The authors outlined three hypothesis for the effect Parkinson’s Disease has on blur- and disparity-driven vergence with reference to location within the vergence system that is affected to be tested in this prospective study. The study recruited 14 participants with...

The power of the full blood count

Vishal Shah walks us through his thought process whilst highlighting the importance of routine investigations when dealing with unusual retinovascular presentations. Retinal changes can arise in anaemia, leukaemia, lymphoma, myeloproliferative and myelodysplastic syndrome. They are often the first manifestation of...

Long-term effect of gene therapy on Leber’s congenital amaurosis

After reporting the first successful gene therapy results for RPE65 deficiency in three patients in a brief report in 2008, the same team from London now report the results of 12 patients followed up for three years after transfection. As...

The extended role of the specialist ophthalmic photographer

The prevalence of certain retinal conditions such as diabetic retinopathy and age-related macular degeneration (ARMD) is projected to grow substantially over the next decades. Estimates for the projected growth in burden on eye services for diabetic retinopathy and neovascular ARMD...

Eyes on the road – visual standards for car drivers

The author examines the current visual standards required by drivers and asks whether more needs to be done to make roads safer. Are the public adequately protected by the current system of visual standards required by drivers? In a survey...

Land Ahoy! An interview with Geoff Hilton-Barber

It was during a previous interview with Miles Hilton-Barber [1] that I discovered that his older brother, Geoff, had been an inspiration to him. He informed me that Geoff was also blind from retinitis pigmentosa (RP) and had built his...

Traumatic optic neuropathy

In neuro-ophthalmology we get asked a lot about management of patients who suffered significant trauma and presented with loss of vision secondary to presumed traumatic optic neuropathy (TON). TON happens usually in the context of significant craniofacial trauma. The incidence...

Motability Foundation and RNIB to explore how journeys can be improved for people with sight loss

A new innovation partnership between the Royal National Institute of Blind People (RNIB) and the Motability Foundation will explore innovative ways of making journeys better for people with sight loss. The three-year partnership will see both organisations share their expertise...

Blame the lens – not its position – in refractive surprise

Aetiology of postoperative refractive surprise Weber coined the term “wrong eye, wrong intraocular lens, wrong patient” in 2008 as an aide memoir of major factors believed to underlie refractive surprise – defined as a significant unintended difference between dioptric refraction...