Micro Ophthalmos

DEFINITION: Microophthalmia refers to a globe with a total axial length (TAL) that is at least two standard deviations below the mean for age. For an adult eye, the lower 2.5% confidence limit for the TAL is about 21mm. In a child in whom postnatal ocular growth continues into adolescence, the lower 2.5% confidence limit must be derived from a normative plot of TAL versus age [Gordon & Donzis 1985, Weiss et al 1989]. • Severe microphthalmia • Simple microphthalmia • Complex microphthalmia PREVALENCE True Anophthalmia: 1 in 100 000 births Microphthalmia: 1 in 10 000 births CAUSES: Anophthalmia/micophthalmia may be isolatd (ie. With no other systemic involvement) or may be part of a syndrome with other associated anomalies. Causes can be divided into environmental, heritable, or unknown. ENVIRONMENTAL CAUSES: Prenatal exposures associated with anophthalmia/microphthalmia include rubella, alcohol, thalidomide, restinoic acid(Fraunfelder et al 1985, Lammer et al 1985), hydantoin (Hampton & Krepostman 1981), and LSD. Recent reports of malformations have been associated with exosure to Benomyl (Kallen, Robert, Harris 1996). HERITABLE CAUSES: Chromosome Abnormalities See MACKS and ICAN sites

Patient 8

I don’t remember the time my son was born. I know he arrived on the 29 July 2012 and I think it was around 13.15pm but I cannot be sure. I don’t remember how I felt when he was placed in my arms for the very first time.  I feel sad about this but as hard as I try I cannot remember. I guess that’s what happens when you are traumatised.  What I do remember was that after the doctor gave him to me I immediately noticed his left eye was shut tight whilst the other was wide open and I instinctively felt something was wrong. I asked the doctor ‘what’s wrong with his eye’, to which he responded… ‘oh nothing many children are born that way’.. And then the doctor was gone.  I stared at my son for what seemed like hours – but I know it was only seconds – and announced to the room ‘there is something wrong.. he looks funny’. I remember one of the nurses responding ‘how can you say that’.  I looked at my husband and I knew that he knew. I said to no one in particular ‘I don’t think he has an eye’. It was then that I forced his eyelid open. I did not see another big beautiful blue eye staring back at me. I saw nothing.  I looked at my husband and said ‘he doesn’t have an eye’.  We stared at each other for what seemed like many minutes but again I am sure it was just seconds. We both started crying. We knew. We knew something was horribly wrong and this was only the beginning. A paediatrician arrived to examine him. He only took a minute. He came to my bedside and gently said… ‘You know he doesn’t have an eye’. I nodded and the tears would not stop.  ‘It’s called anophthalmia and I have never seen a case of this in all my years as a paediatrician’. 

Since that day and for the next six months we saw countless doctors and held my son as he underwent test after test. It began with an MRI to determine whether his brain was okay. It was. The MRI also showed that he had severe microphthalmia and not anophthalmia. anophthalmia means that there is no eye and micropthalmia is an abnormally small eye.  microphthalmia occurs in approximately 1 in 10,000 live births and anophthalmia affects 1 out of every 100, 000. (For more information about these conditions see www.macs.org.uk and www.anophthalmia.org).  His eye is so small that you cannot see it which is why he was initially diagnosed as having anophthalmia.

Following the MRI my son had a scan of his heart and kidneys and at just 10 days old he had what looked like little suckers placed all over his tiny head as a light was turned on and off for over 40 minutes to determine whether he had sight in his right eye. He did. Over the course of 6 months he had three spacers placed into his empty socket to make it expand. The spacers worked so well that his eyelid went from being shut closed tightly to being wide open. It was then that it became real for me.  When I looked at my son I always focussed on that blank socket. I couldn’t help it. Friend and family said it didn’t matter. I fooled myself into believing it didn’t.

That is until I had to travel. You see we live in Zimbabwe and to see a specialist we had to fly to South Africa.  It was during these trips that I saw how others saw him. Some recoiled in shock and gasped and others looked away or looked through us.  A man that sat next to me on one unforgettable flight firmly told me I should not let my son stick his fingers into his eyes. Many strangers curiously asked what was wrong. Most stared at him until they caught my eye and then they quickly looked away in pity. I am sure they saw pain on my face. Because when I look back although I told the world I was okay I was not. It’s a very painful experience to see the world look at your son that way. You want them to look at his smile and comment on how adorable it is. You want them to ask his age and his name and comment on how much hair he has. You want them to ask you how you are coping as a new exhausted mom.  The fact is we communicate though our eyes. A lot of poetry and some of the most clichéd sayings are about the eyes… you know the one… the eyes are the windows to the soul. So it is a pretty big deal actually when your baby is missing one.

And then I met Vida Trumpelman (www.vidat.co.za). Vida is an ocularist in Cape Town South Africa. Frankly to me she is an artist, a magician and a healer.  Put simply she makes and fits prosthetic eyes and in January 2013 she gave my son his first. I wish every one of you reading this could have been in that room when she gave him that eye. It’s hard to describe using words. But if I had to I would say it felt as if I had been holding my breath for too long under water and just as my lungs were going to explode from sheer pressure I came up for air and breathed in deeply.   Since that day strangers have commented on the beautiful smile my son has, his thick hair and … his big beautiful blue eyes. (See the before and after pictures above).

Patient 16

My daughter was born with a very under-developed left eye. When she was two year old Vida fitted her with her first artificial eye. This happened every two years and will continue until she has a perfect match in size and overall cosmesis. She is now nine years old."