A bit about my macular dystrophy (the science bit)

If you’ve read my intro, you will know that I first noticed an issue with my vision whilst reading a book on holiday back in 2012. I noticed a smudge on my sunglasses that was distorting the left page, and was struggling to clean this from my glasses. It took a while for me to realise that the smudge remained in my vision even when my sunglasses were off.

I spent a lot of the rest of my time on that holiday constantly closing and opening each eye individually hoping that my left eye would just go back to normal. I had always had 2020 vision so this was just completely incomprehensible to me.

Back in the UK, I visited my optician. I had in the previous few years started getting regular eye checks as I had struggled with screen use at work. No prescription had been needed, just glasses that had an anti glare coating as my eyes were constantly tired. Returning to the optician with a ‘smudge’ was a significant change.

The tests and imaging (retinal photos) highlighted some abnormalities that required a referral to an eye consultant. More scans, images, and rafts of tests at local hospitals followed and the outcome was a referral to Moorfields Eye Hospital in London with a list of possible and scary conditions from the consultant.

It was now November and I was asked to attend an extensive diagnostic appointment at Moorfields. For almost 4 hours I was in a room undergoing full visual tests, scans and imagery of my eyes. It was at best uncomfortable, and often painful . I have always been sensitive to bright light since my teens, something I’d put down to just being a bit of a Goth and spending to much time in dark bars and venues.. The constant bombardment of light on dilated pupils in dark rooms was horrendous. I left the assessment around 6 in the evening unable to see properly due to the drops and fluorescein. I walked back to Old Street in big dark glasses guided by my husband Neil – it was November, so it was already dark and I suddenly felt very vulnerable.

All I knew at this point was that the concern was around my macula. The macula is part of the retina, about the size of a grain of rice, but it is the bit that is responsible for our central vision, colour vision and seeing all the fine details.

At my results appointment it was confirmed that I had a genetic condition called Pattern Macular Dystrophy. Its one of the main types of Juvenile Macular Dystrophies (JMD). I was told that gradually I would lose part or all of my central vision and it would also progress to the other eye.

I had to undertake genetic tests for the database that is being compiled for research to help identify the ‘faulty’ genes. At some point this would potentially assist in finding cell based treatments to slow or maybe even reverse the progression.

Currently there is no treatment for my condition. The prognosis was that over 20 years my sight will continue to deteriorate and the condition appear in my right eye too. The good news was that my macular damage was slightly off from my central vision and on most days I didn’t even notice the ‘smudge’ as I went about my day to day stuff. My brain was already adapting to processing my vision with missing bits, and for the next 5 years things just continued largely as normal.

If you are interested in finding out more about Macular Dystrophies Follow this link to The Macular Society website: https://www.macularsociety.org/macular-dystrophies

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