About – a bit of History

When our Josh was a baby he had very dark eyes. I used to wonder how long it would take for their true colour to come out. I’d gaze at them intently, only noticing that they were inky and black almost, and would occasionally flicker, or wobble like jelly. He was our first baby and we didn’t know any different, but as he grew we couldn’t ignore that his eyes were different. One eye also looked quite “lazy” and he would often look at things very closely with his left eye. At the urging of his grandfather we took him to a Paediatric Opthalmologist (PO) just after he turned 2. I was 7 months pregnant, on my own, and the appointment was in the morning of the day I was due to drive for 5 hours home to my parents for Christmas. The Doctor was running late, really late. So late that my father had time to drive to his nearest airport and fly up to meet me, when it became obvious that I wasn’t leaving with good news…

The diagnosis was Ectopia Lentis et Pupillae. Google it and you’ll find not much at all. It’s incredibly rare, and one of those genetic conditions we had to be incredibly unlucky to pass on. There’s is very little information about this condition, and few people have heard of it. We were lucky that our PO knew what it was, as it is easy to miss if you don’t know it exists. We’ve done a lot of research since then to educate ourselves about it, but we get a lot of blank looks when we mention it to friends and family – it’s that rare. So this blog aims to demystify the condition a little bit, and hopefully explain what we’re living with…

Dr R’s first words after examining Josh that day were, “his eyes aren’t normal.” That’s an understatement if ever I heard one. The best explanation I can offer after all this time is this: His pupils have grown off centre and his lenses are also off centre, but in the opposite direction to the pupil. This limits how much of his eye Josh can see with. One eye is worse than the other, and as a result, the brain has almost switched it off. When it comes to developing eyesight, it’s a case of use it or lose it. So he does sort of have a lazy eye, but the correct term for it is Amblyopia. He’s also very shortsighted.

The muscles holding the lenses in place in Josh’s eyes (the Zonules) are very fragile, which means his lenses can move about a bit (not a good thing). It’s like trying to attach a dinner plate to a wall with sticky tape… Small things like a fall or a bump on the head can cause the lenses to move at any time (also not a good thing). We’ve visited the PO fairly regularly since the initial diagnosis and it appears that the right lens has moved. It now crosses over Josh’s line of sight, so to use another analogy, it’s like looking through the meniscus in a glass of water, which makes it a lot harder to see, and more likely that the brain won’t connect with that eye.

So we’ve faced the difficult decision to operate. I can’t begin to explain on this page how much angst that caused and how many sleepless nights we tossed and turned, Googling and emailing, how many opinions we sought, before finally accepting that it was our only option. And that’s where we are now. A week away from a lensectomy, to remove the right lens, and an IOL implant insertion (an artificial lens being put in). Stay tuned…


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