Central Areolar Choroidal Dystrophy (CACD) is a rare inherited condition that affects the macula, the small area in the middle of the retina that is primarily responsible for our central vision.
CACD causes thinning of all of the layers of the retina in the affected area, leading to progressive vision loss.
People affected by CACD usually start to notice vision problems in their 20s or 30s but there can be significant variation in age of onset. Symptoms can include blurred or distorted central vision, which can then progress to complete loss of an area of central vision. However, peripheral vision is not normally affected. CACD is sometimes misdiagnosed as Stargardt disease, Best disease or, if onset occurs later in life, dry age-related macular degeneration (dry AMD).
CACD is associated with mutations in the PRPH2 gene, which is essential for the structure and function of light sensitive cells in the retina. A genetic test can help confirm the clinical diagnosis.
CACD normally follows autosomal dominant inheritance, which means that each child of an affected person has a 50% chance of inheriting the condition and there is likely to be some family history of sight loss. You can find out more about autosomal dominant inheritance at Autosomal dominant inheritance – Retina UK .
Currently there is no treatment for CACD, but a low vision specialist can recommend resources and services to help you adapt to life with sight loss. Care under the supervision of an ophthalmologist is recommended.
The Retina UK Helpline provides information, support and signposting for people affected by inherited sight loss as well as healthcare and education professionals.
Contact 0300 111 4000 (9.00am – 5.00pm Monday to Friday and Tuesday and Thursday evenings 5.00pm – 8.00pm) or email Helpline@RetinaUK.org.uk.
Your doctor or genetic counsellor will spend some time asking about other people in your family to try to work out the way in which your particular faulty gene has been passed down through the generations – this is referred to as the inheritance pattern.
Many research studies could not take place without the participation of people living with inherited sight loss.
The development of a new treatment is a lengthy process, from early investigation of ideas and principles in the lab, through testing in cell and animal models to the final stages of clinical trials in human patients. The good news is that progress is increasingly rapid.
Our Retina UK Peer Support Group network offers information and support via regular meetings both online or in-person.
The content on this site will have answered some of your queries about inherited sight loss and associated syndromes, but everyone’s circumstances are different and you may have further questions.
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