Alström Syndrome is a very rare, hereditary genetic disorder first described by C.H. Alström in Sweden in 1959. This condition affects multiple organs in the body, including the eye where vision abnormalities may be experienced. It is a progressive condition, with a number of potentially serious complications.
To date, over 1,200 people have been diagnosed with this condition worldwide. The prognosis (outlook) for this condition can vary from person to person. Early intervention with diagnosis, treatment of symptoms and monitoring of the condition can provide potential benefits, including improving quality of life and lifespan.
The symptoms experienced by each individual diagnosed with Alström Syndrome can vary from person to person. In some cases, the age at which a person develops these symptoms can also differ, ranging from infancy to early adulthood.
The first sign observed in infants is usually extreme light sensitivity (photophobia) and involuntary eye movements (nystagmus). Another of the first signs may be dilated cardiomyopathy and congestive heart failure in infants under one year of age.
Children rapidly gain weight during their first year and become obese as young children. Later, multiple organ systems in the body can be seriously affected. This can result in symptoms including hearing impairment, type 2 diabetes, heart failure, liver disease, pulmonary fibrosis, progressive kidney dysfunction (and potentially renal failure). Individuals may also experience visual problems, including Cone-Rod Dystrophy and cataracts. These problems can cause significant visual loss, which can progress, potentially leading to blindness. This can occur as early as the second decade of life, although other individuals may retain some degree of vision for a longer period.
Alström syndrome is a genetic condition, which is caused by mutations (harmful changes) in the ALMS1 gene. This gene has been recognised to play a role in numerous functions within human cells. This includes control of the cell cycle, ciliary function and transport within the cell.
This condition is inherited in an autosomal recessive manner, meaning both copies of a gene don’t work correctly. In this case, the individual’s mother and father have both passed on a mutation in a gene giving rise to Alström Syndrome in their child.
Alström Syndrome is diagnosed through a number of tests which are important for providing the correct diagnosis. This can include taking clinical tests, medical history and a family history. Genetic testing can also be beneficial for confirming a diagnosis.
It is important to note that in some cases, early diagnosis can lead to a recovery from heart related problems and that early visual signs may accelerate that diagnosis.
Currently, there is no one specific treatment for Alström Syndrome. Rather, specific symptoms of the condition can be targeted. However, researchers have made advances in understanding the condition and developing treatments for it. More information about these advances can be found in our Research section.
For individuals experiencing vision loss, prescription glasses with special tints may reduce light sensitivity. There are many low vision aids which may also be of assistance. The wide range of assistive technologies for people with visual impairments provides plenty of choice for users at all stages of sight loss and this technology has also removed many barriers to education and employment.
For hearing loss, individuals may find benefit from hearing aids and/or cochlear implants. For diabetes, there are a number of options to assist with managing the condition, including dietary and exercise advice, as well as medication.
General eye check-ups are important for people with Alström Syndrome, as these individuals may still be at risk of developing other acquired eye problems that commonly affect the general population, some of which may be treatable.
No matter what level of vision a person may have, it is important to look after the eyes. To find out more about what can be done to take care of the eyes on a daily basis, please visit our Tips for Good Eye Health.
Researchers are making strides to learn more this condition and are making progress in developing new treatments.
In the context of clinical trials, researchers have been gathering information about the presentation of this condition, namely in terms of the symptoms which present. Through this work, the researchers aim to target these features for treatment. In terms of treatment, current clinical trials are focusing on interventions to target a number of areas, including fibrosis and obesity.
Recent research has also focused on the gene associated with Alström Syndrome, ALMS1. Researchers have been looking to ways to deliver healthy copies of this gene to the retina, in an effort to replace the non-functioning/damaged copies of the gene. So far, work has centred on developing a means of delivering this gene into the retina. Current technologies (using a dual vector; like a transport vehicle) can only deliver genes of a relatively small size to the retina. Newer research in animal models is focusing on developing a triple vector transport vehicle which can carry larger genes, including ALMS1 to the retina. While promising, further work will be required to check if it is safe to give to humans and to determine its benefit.
Information about clinical trials can be found on their website and can be searched by condition and trial location.
For further information, please contact the Research Department on 01 6789004 or e-mail research@fightingblindness.ie.
Receiving a diagnosis can be overwhelming for anyone, but this is not a journey that you have to make alone. There are many groups and resources available to provide support for people living with Alström syndrome.
Fighting Blindness offers a free and confidential counselling service (Insight Counselling). For further information please contact insight@fightingblindness.ie or call 01 6746496.
A mindfulness group is also available on every Wednesday at the Fighting Blindness office at 11am.
For technology support and guidance, the Dublin-based Technology Exchange Club meets every Monday at the Fighting Blindness office at 11am. Another Technology Exchange Club, based in Cork, meet every Saturday in the Cork City Library, Grand Parade, Cork City at 11am. The Cork-based club do not meet on Bank Holiday weekends or on the second Saturday of the month. For further information please contact insight@fightingblindness.ie or call 01 6746496.
Féach provides support for parents of children living with sight loss in Ireland.
ChildVision is the national education centre for children with sight loss in Ireland.
NCBI (National Council for the Blind in Ireland) provides support and services for people living with sight loss in Ireland.
Irish Guide Dogs for the blind helps individuals and their families to achieve improved mobility and independence.
Alström Syndrome UK provides support and information for people living with Alström Syndrome.
Alström Syndrome International is an information and support service for people living with the condition.