Friday, 29 July 2016

Introducing Theodor Karl Gustav von Leber

Well needless to say I had absolutely no idea what it meant to have LHON. Or even less what it meant to have mutation 11778. I still had in the back of my head that at some stage they'd fix everything.

On my last trip to the Eye and Ear my mother was with me. We were there to meet with one of these experts to find out exactly with LHON is, what it does, long term prognosis, that kinda thing. 'Blah Blah Blah... Blah Blah Blah,' the doctor explained in his doctor voice. Do they get issued with this voice in med school?
'What the **** is this guy on about,' I thought to myself, 'Is he even speaking English'. I could tell my mam wasn't fairing any better either. 'Yes of course I know what  mitochondrion are,' I said, 'sure doesn't everyone'.

The doctor went on in his doctor voice explaining about the discoverer of Leber's Hereditary Optic Neuropathy (LHON), one Theodor Karl Gustav von Leber. 'That's right,' I said, ' Sure didn't Gay Byrne interview him last year on the Late Late Show'. Leber himself died in 1917.

The doctor went on: 'The nature of the causative mutation was first identified in 1988 by Wallace et al. who discovered the guanine (G) to adenosine (A) mutation at nucleotide position 11778 in nine families. This mutation converts a highly conserved arginine to histidine at codon 340 in the NADH dehydrogenase subunit 4 of complex I of the mitochondrial respiratory chain. The other two mutations known to cause this condition were identified in 1991 (G to A point mutation at nucleotide position 3460) and 1992 (thymidine (T) to cytosine (C) mutation at nucleotide 14484)'. (I pulled this off the net by the way. Sure all the experts did was read it from an old book anyway).

'Yes of course it's so obvious,' I said, I really had no idea what the hell this guy was on about. Only a few weeks ago I'd been struggling with Bernoulli's theorem in gas turbine class, but this was on a whole different level. 'Is there not like a layman's guide to going blind,' I thought. They really have no idea how to relate to patients.

There was light at the end of the tunnel however. All you had to do was see the light. In very rare cases young males do get their sight back. So I was rare to get this LHON but if I was even rarer again I might get my sight back. 'Wait a minute,' I questioned, 'I thought you said the cells in the optic nerve were dead, so how come in rare cases the sight comes back'. See I was listening after all.
'Well um um eh. We don't really know,' he said. 'Ok so now what?' I asked.
'Well at this rate of loss your sight could be completely gone within a month,' I was told. 'Are you sure I can't take a pill or something - for Gods sake.?' Nope that was it.

After seven weeks with people poking around in my eyeballs that was it? Really! Not even as much as a paracetamol in that whole length of time..
Nothing they could do and I would  have no sight within the next month. Needless to say I was numb all over. You can only imagine what my mother was feeling. You need to see a neurologist as soon as possible they said - hopefully we will be able to get you an appointment in about 6 weeks.  Great - I thought, I'm going blind and they want me to wait 6 weeks to see someone who might be able to help - bloody marvelous.

As apprentices we had to live in, so my mam had to drop me back to Baldonnel that evening. Probably not the place where she wanted to be bringing me after getting the news we had just received. Back in the apprentice hostel the lads were summoned (Mark Elliott and Darren Mahony from what I can remember. The usual culprits in all shenanigans at that time). Out came the hidden bottle of Jack Daniels. I filled them in on what the doctor had told us. After several attempts to recite what the doctor had explained I went for the layman's version: 'optic nerves f**ked, no signal to the brain, sight bad, sight gone in a month'. Then again Jack wasn't helping matters.

'So,' the three of us pondered at the end of the bottle, 'what now'.

The one and only Theodor Karl Gustav von Leber (29 February 1840 – 17 April 1917). For your next table quiz Leber was the first to describe what is now known as Leber's congenital amaurosis in 1869 and Leber's hereditary optic neuropathy in 1871. I'm sure he was a great guy but I still would have preferred if he'd sent me the lotto numbers.


  1. And I believe the first family in our heriditary line to have the disease had the family name of Lawlor, right, Wes?

  2. Fascinating read, Wes. Can't wait to read the upshot.