Visual System Abnormalities in Albinism
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
