Beersville UK - Zoe Beer photos by Daddy

“Ooh, I like your cool sunglasses !”

Zoe is severely sight-impaired and light-sensitive.

She has the following conditions:

+ No irises.: Bilateral, (both eyes), iris hypoplasia or partial aniridia. This rare, genetic condition means Zoe has almost no irises, (irides), and is sensitive to light. Her irises are underdeveloped and do not have the muscles required to contract and dilate. Outside, daylight can wash-out her vision if she is not wearing sunglasses. Her eyes look almost totally black unless you look closely and make out her thin, blue irises.
+ Underdeveloped eyes.: Images are focussed on the inner surface of the eye, (the retina), and detail comes from a central area called the fovea. Zoe’s eyes did not form properly in the womb, (hypoplasia), and these parts of the eye do not work as they should, causing blurring.
+ Wobbly eyes.: Nystagmus is a condition of involuntary eye movement that may result in reduced or limited vision.
+ Crossed eyes.: Strabismus, heterotropia or a squint is where the eyes are not properly aligned with each other. A lack of coordination between the eye muscles prevents bringing the gaze of each eye to the same point in space and hampers proper binocular vision. This may also adversely affect depth perception. Zoe has had an operation to correct this but some misalignment remains. Further operations are not recommended as they could damage other areas of her weak eyes.
+ Cloudy eyes.: Zoe has small circular cataracts on the middle of each lens. They should not obscure her vision at the moment but they may get larger as she gets older.
+ Rugby-ball shaped eyes.: Astigmatism is an optical defect in which vision is blurred due to the inability of the eye to focus an object into a sharp focused image on the retina. This may be due to a toric, (rugby-ball), curvature of the cornea or lens. Zoe’s glasses and prescription sunglasses help to correct her astigmatism.
+ Difficulty falling and staying asleep.: The pineal gland in Zoe’s brain in absent. The condition is often associated with aniridia. The gland is responsible for producing the hormone melatonin which regulates sleep patterns. Zoe has now been prescribed melatonin which she takes every night before bed which has helped immensely.
+ Joint pain.: Hypermobility describes joints that stretch further than normal. Zoe suffers from muscle pain in her legs – usually in the evening or at night. She can also be unsteady on her feet.
+ Occasional hearing impairment.: Zoe sometimes suffers from glue ear – possibly caused by a thin Eustachian tube and has had grommets fitted in the past to help her hear better.

“Your child just ran into me !”

Zoe prefers to look at things a few centimetres from her face and slightly to her left. Her useful vision drops off sharply after about a metre, although this may not be apparent to the casual observer. Concentrating visually for any significant length of time causes Zoe to become very tired.

She is more prone to accidents – typically walking or running into things and falling over. She can be reluctant to report or show an injury as she is embarrassed by the knowledge that her vision makes her clumsy. However, she refuses to let her eyesight stop her from running around and having fun like any other child.

“Will she get better soon ?”

We like to think that time heals all wounds but unfortunately, in Zoe’s case, her vision is expected to start to deteriorate by the end of her teenage years and probably sooner. She has her eye pressures checked every six months to look for any onset of glaucoma and eye infections need to be acted upon immediately to prevent permanent damage. There are wondrous medical breakthroughs happening all the time but no one is expecting to be able to rebuild a human eye anytime soon.

Zoe is not currently short or long sighted. Her glasses can help correct her astigmatism but not any of the other causes of her reduced vision.

We are hoping she will be admitted to a relatively local, mainstream school with an integrated, specialist Vision Impairment unit. She is not old enough to read but can recognise the letters of the alphabet and numbers. No decision about whether she will benefit from learning Braille has been made.

The smallest size of print she can read is estimated at about 48 points.

Being the parent of a child with a rare condition ...

Written by Heather, February 2015, for rare disease day.

Being the parent of a child with a rare condition brings with it an additional layer of challenges and opportunities. Both my children were born with medical conditions but only one is rare.

Natasha was born with a cleft lip and palate and support was available from diagnosis, (in utero), from a professional team so our emotional adjustment began before she arrived. We felt well supported, walking a path many people had walked before. We trusted the team because they'd seen it all before and could reassure us and advise the best treatment. They could talk us through all the things to expect in terms of treatment as she gets older and she remains under the same team until she's 21. The professionals all know each other, communicate well and refer between each other as the need arises.

Zoe's aniridia was diagnosed at five weeks old after we'd raised concerns. We got an initial diagnosis relatively quickly but were referred on immediately as the local consultant had never seen it before. The journey we've walked with Zoe has been much more isolative. Zoe's care is not joined up. She regularly sees four different teams and they don't communicate. It has been a constant journey of discovery, mostly with me seeking answers from other people with the condition or individual professionals who have done a single piece of research. Several times we've highlighted problems and these have not been taken seriously as it did not fit into any neat box of the limited role of that professional. Professionals then tend not to refer on as they almost don't believe there is a problem and we feel as if they hope it will just go away. They don't have time to do extensive research into aniridia or appreciate that the problems go beyond her eyes.

This means we've had to fight for answers and the best care. Zoe's care is micro-managed with poor communication between the teams. Often we are left to educate the professionals. The hardest parts have been getting our sleep issues taken seriously and understanding the deteriorating nature of the condition. Having described the constant battle we've had, she has done extremely well. She is registered blind but people often say you'd never know. This is both a compliment and a hindrance. Overall, I am extremely proud of her and how far she's come. From a very unsettled baby who didn't smile or sleep to a confident, brave child who has a learned a large range of coping strategies that we are often unaware of.

Our journey isn't over yet. There are still areas we are working on; areas that we see as a difficulty but professionals don't. I think, in time, these will be recognised as part of this syndrome. Until then I continue to support both my girls to live a fun, normal, healthy, fulfilling life. They both have excellent role models, external to the family. On rare disease day please take a moment to understand the complexities of having a rare condition and send a little more understanding to those families who walk this complex, challenging yet rewarding path that they did not chose to be on.

More information

RLSB Mums helping Mums article: Getting the confidence to seek support - Heather, on coping with Zoe’s sight loss.

For more information on aniridia, please see:

For more information on nystagmus, please see:

The Nystagmus Network
Northwick bear for children