University of Edinburgh
 

Medical Information on Jeune's Syndrome

by Dr Andrew Blaikie for VI Scotland

This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith.

What this Information is not for?

This document is not a substitute for a consultation with a Health Professional and should not be used as a means of diagnosing a condition.

We hope the Information will help you to:

  • Have a better understanding of the condition
  • Know what tests and treatments are normally available
  • Know when to seek professional advice
  • Be able to discuss the condition in a more informed way
  • Make the most of consultations with carers, teachers and health professionals
  • Be reassured and more able to cope

Due to staffing limitations we are not able to offer telephone or email advice to parents of children.

Medical Information on Jeune's Syndrome

What we see is made in the brain from signals given to it by the eyes. What we see is in fact made in the brain. The brain makes sight from signals given to it by the eyes.

What is the normal structure of the eye?

The eye is made of three parts.

  • A light focussing bit at the front (cornea and lens).
  • A light sensitive film at the back of the eye (retina).
  • A large collection of communication wires to the brain (optic nerve).

A curved window called the cornea first focuses the light. The light then passes through a hole called the pupil. A circle of muscle called the iris surrounds the pupil. The iris is the coloured part of the eye. The light is then focused onto the back of the eye by a lens. Tiny light sensitive patches (photoreceptors) cover the back of the eye. These photoreceptors collect information about the visual world. There are two different types of photoreceptors named by their shape when examined in fine detail. They are called 'rods' and 'cones'.

Rod and Cone Photoreceptors are good at seeing different things

Rods are good at 'seeing':

  • things that move
  • in the dark
  • but only in black and white
  • and in less detail.

Cones are good at 'seeing':

  • things that are still
  • in daylight
  • in colour
  • and in fine detail.

The covering of rod and cone photoreceptors at the back of the eye forms a thin film called the retina. The central bit of the retina is made up of cones. They help us see the central bit of vision that we use for reading, looking at photographs and recognising faces. The area of the retina around the central bit is made up of rods. The rods see the surrounding bits of vision and help us to walk around and not bump into things especially in the dark. Each photoreceptor sends its signals down very fine wires to the brain.

The wires joining each eye to the brain are called the optic nerves. The information then travels to many different special 'vision' parts of the brain. All parts of the brain and eye need to be present and working for us to see normally.

What is Jeune's Syndrome?

Children with this condition are born with bones that do not always grow properly and to full size. The rib bones can be small making the chest look narrow. This can lead to shortness of breath. The kidneys and liver can often have reduced function. Children with Jeune's syndrome often have visual impairment due to problems with the retina of the eye.

How does Jeune's Syndrome affect a child's vision?

The photoreceptors in the retina can over a period of years, slowly 'wear out'. Often only the 'rod' photoreceptors are affected. This can lead to difficulties seeing in dim light. If the 'cones' are also affected then the sharpness of vision can gradually reduce as well as the ability to see some colours. The loss of vision is very slow and gradual. The child may not notice it. As more photoreceptors wear out the child's visual impairment may become more obvious in their behaviour. The child may however still feel their vision to be 'normal' unaware that others see things differently.

Sometimes children can develop fast to-and-fro movements of the eyes (nystagmus) if vision is poor. Squint can also develop.

What is the cause of Jeune's Syndrome?

Nearly all cases of Jeune's Syndrome occur by chance. Occasionally the condition can occur for the first time in a family as a result of marrying a cousin or a more distant relative.

What can be done to help?

If one eye is affected more than the other patching of the child's better eye can encourage the other eye to develop better vision. Wearing spectacles may also help vision.

Kidney problems can sometimes be improved with 'dialysis'. 'Dialysis' is when the child's blood is 'cleaned' by letting it flow through a special 'renal dialysis' machine. Very rarely kidney transplants are performed to help improve kidney function.

Some children have had operations to the bones of their chest to help improve breathing.

How can parents, family, friends and teachers make a difference?

We use our vision to get around, learn new things and to meet other people and make friends. It is important to be aware of your child's own special problems with vision.

Problems at school may be due to some of the reading books being hard to see. This often means it takes longer and more effort to do the work. If the size of print is increased most children will find schoolwork easier.

It is worth watching carefully to find out what the smallest toys are that a child can see and play with. Then try to only play with toys that are the same size or bigger.

Recognising facial expressions can often be difficult. It is worth trying to find out at what distance facial expressions can be seen and responded to. Then always try to talk and smile from within this distance. This helps a child to learn what facial expressions mean and to copy them.

Even if a child has very poor vision many useful and practical things can be done to help.

Who wrote these documents?

These pages are the consensus of opinion of many different people. They include parents of visually impaired children, visually impaired children themselves, Community Paediatricians, Ophthalmologists, Educationalists and Psychologists.

The main author and person responsible for their content is Dr Andrew Blaikie who was an Ophthalmology Research Fellow with Visual Impairment Scotland and is a member of the Royal College of Ophthalmologists.

vis logo