Auld Lang Syne and Albinism

2011 seems to me to have gone especially quickly, and to have been perhaps especially portentous. Devastating floods in Brisbane and south Queensland, tsunami in Japan, earthquake in New Zealand. The Arab Spring led to changes of government in Tunisia, Egypt and Libya, pledges of reform in Yemen, and is ongoing in several other countries. We need to wait and see where these developments lead.

It’s hard, if not impossible, to pick the most important development of 2011 for eye health. I’ve discussed some of them in this blog. One very exciting study that is ongoing, but which is due to be completed this month, is a trial of L-Dopa for vision improvement in Albinism, led by Dr Gail Summers at the University of Minnesota.

Albinism is a group of inherited conditions in which genes that control melanin pigment production are affected and don’t function normally. The most heavily pigmented tissues in the body are the skin, hair and eyes, and these tissues are affected in people with albinism to a greater or lesser extent.

In the eye, albinism leads to reduced pigment in the iris and choroid, failure of normal development of the macula, instability of gaze-holding (nystagmus), and abnormal optic nerve “wiring”. The result of these changes is reduced vision, particularly at distance, and many people with albinism are “legally blind”, or have severe visual impairment. So far treatment is really limited to optical and visual rehabilitation, correcting near- or far-sightedness with eyeglasses, skin and eye protection from the sun, and surgical realignment of strabismus.  

L-Dopa (or levodopa) is a precursor molecule for the neurotransmitters dopamine, noradrenaline and adrenaline. It is used in the treatment of Parkinson’s Disease and has been trialled in the past, without success, in the treatment of amblyopia. The rationale for its use in Professor Summer’s study is that providing levodopa to the retina of a patient with albinism may lead to increased melanin production, and improved vision.

I’m very excited about the possibility that we may be able to offer hope of improvement in vision to people with albinism, and I will be waiting to see where these developments lead.