Visual System Abnormalities in Albinism

Dr Frank Proudlock, Ophthalmology, Department of Neuroscience, Psychology & Behaviour, University of Leicester

We have used optical coherence tomography (OCT) and eye movement recordings to characterise developmental abnormalities in the eyes resulting from albinism. This work provides a systematic exposé of the whole visual system in albinism and has also generated important diagnostic and prognostic tools in albinism. We have investigated:

Iris abnormalities

We found significant thinning of the iris in albinism and that this can be used as an objective clinical tool to help diagnose albinism (Sheth et al., 2013).

Foveal abnormalities

Using OCT we find a spectrum of development throughout the retinal layers at the fovea. However, only abnormalities of outer retinal layers relate to visual deficits (Mohammad et al., 2011).

Retinal pigment epithelium

Investigations are ongoing.

Optic nerve head

We have developed novel ways to realign images that are misaligned due to nystagmus. The realigned scans show a number of abnormalities of the optic nerve head and retinal nerve fibre layer.

Optic chiasm and visual cortex

In collaboration with University of Nottingham we have been using MRI to measure abnormalities of the optic chiasm and visual cortex.

Eye movement abnormalities

We have described for the first time differences the clinical and ocular motor characteristics of patients with albinism associated IN compared patients with idiopathic IN (Kumar et al. 2011).

Hearing and Balance

We are currently exploring hearing and balance deficits in albinism in collaboration with the Audiology Department at the Leicester Royal Infirmary.

Links

Impact of Infantile Nystagmus on Reading

Developing Treatments in Visual Disease

About Dr Frank Proudlock

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Department of Neuroscience, Psychology and Behaviour
University of Leicester
University Road
Leicester
LE1 7RH

T: +44 (0)116 252 2922
E: npbenquiries@le.ac.uk

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