Alstrom Syndrome – Information and Support
Alström Syndrome is a rare recessively inherited genetic condition, both parents need to carry the gene to affect the child, although probably be unaffected themselves. The condition affects many body systems. Symptoms develop gradually and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease.
How does Alstrom Syndrome affect sight?
The affect the condition has on a child’s sight becomes apparent in the very early weeks of life and it is usual the child will have progressive sight loss. It is evident very early on that the baby has a dislike for bright lighting (photophobia). The condition causes cone-rod dystrophy, which is a form of retinal dysfunction where the cells in the retina (cones and rods) that convert light into nerve impulses gradually deteriorate causing progressive vision loss.
In addition to vision loss, individuals with Alstrom syndrome may develop nystagmus, causing rapid, involuntary movement of the eyes. Some people may also develop cataracts, clouding of the lens of the eye. In most cases, vision becomes progressively worse through the first and second decade of life which may result in blindness in the mid-teens. However, the progression and degree of vision loss among individuals with the condition will vary.
- Retinal Degeneration (inherited progressive eye disease)
- Nystagmus (wobbly eyes)
- Photophobia (sensitivity to light)
“Diagnosed at 17” Living with one of the rarest conditions in the world
The challenges of living with one of the rarest and most complex conditions in the world.
Diagnosis of Alstrom Syndrome
The diagnosis of Alström Syndrome is made on the basis of the following tests and exams:
- A detailed physical examination and an evaluation of one’s family and personal medical history
- Symptom assessment
- Vision and hearing exam
- Electrocardiography and echocardiography to check heart function
Blood tests to check the levels of the following:
- Blood glucose
- Triglycerides
- Thyroid hormone
It is a very rare condition with around 1200 families globally affected, around 260 people in Europe, including around 90 in the UK.
It is caused by changes in the ALMS1 gene. Alstrom syndrome is a recessive condition meaning both parents must carry one copy of the mutated ALMS1 gene to have an affected child.
Treatment of Alstrom Syndrome
There is no cure or condition specific treatment for Alstrom Syndrome. However, there are effective treatments for some of the symptoms such as heart failure, diabetes and obesity. Sensitivity to bright light (photophobia) can be treated by wearing dark tinted glasses. Hearing aids and cochlear implants can be used to support hearing loss.
Treatment for Alstrom syndrome also involves following a healthy, balanced diet as well as regular physical exercise to keep weight under control and help manage type 2 diabetes.
Helpful Links and Organisations
Alstrom Syndrome UK
A UK based national charity, which works specifically with people affected by this condition, their main aims are; to support people who are affected by Alström Syndrome including their carers and the professionals who are working with them. To raise awareness amongst both the public and medical professions of Alström Syndrome. To raise funds to promote research into Alström Syndrome.
Click here to find out what ways they can support you.
Click here to find out more about their work within the rare diseases sector.
Retina UK
A national UK based charity that has developed a wide range of services to support people living with a vision impairment. Children and adults. Friends and family. They have an Alstrom Syndrome support section on their website that provides in depth information about supporting a child with the condition.
Click here to find out more about living with Alstrom Syndrome.
Connect with other parents and find support with VICTA
Join the VICTA Parent Network – with almost a thousand members! You’ll find parents who have vision impaired children of all different ages and with various eye conditions. You can use the group to ask questions you may have and connect with parents of children with shared conditions or from your local area.
Visit the support section of the VICTA Parent Portal here to find out about support groups, both in your area and online.
VICTA activities
VICTA is a national charity supporting children and young adults who have a vision impairment from 0 to 29 years. We have a calendar of fun and engaging activities across the year to help young people make friends, grow in confidence and gain the skills they need for an independent future.
Visit the VICTA activity calendar >
Stay up-to-date with VICTA’s news and latest activities on social media @VICTAUK.
