Doyne honeycomb dystrophy

Doyne honeycomb dystrophy is an inherited disorder which causes progressive sight loss.

It is characterised by drusen forming near the macula, and at the point where the optic nerve enters the eye. Drusen are start small, round white spots which gradually grow together, forming a honeycomb pattern.

Symptoms

People with Doyne honeycomb dystrophy may notice problems seeing detail, distortion, for example, straight lines looking wobbly, gaps in the centre of their vision, and difficulty adapting to changes in light level. Doyne honeycomb dystrophy usually develops in early-to-mid adulthood, although occasionally teenagers are affected. Once the drusen appear, people gradually lose their central vision, although peripheral (side) vision is not affected. Some people have more rapid sight loss caused by new blood vessels growing behind the macula.

Cause

Doyne honeycomb dystrophy is caused by mutations in the EFEMP1 gene. This causes the gene to ‘fold’ a protein incorrectly and stops it breaking down as it should. The protein then builds up to create drusen inside the tissue of the eye  which stops nutrients entering from blood vessels to the light sensing cells that need them. Doyne honeycomb dystrophy is inherited in an autosomal dominant pattern meaning that only one copy of a person’s gene must be faulty for the condition to occur.

Treatment

Currently there is no treatment for doyne honeycomb syndrome however, a low vision specialist can help recommend resources and services to help the individual adapt. Care under the supervision of an ophthalmologist  is recommended.

For support

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.

Useful links

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Inheritance patterns

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.

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Joining the research effort

Many research studies could not take place without the participation of people living with inherited sight loss.

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Approaches to treatment

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.

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Local peer support groups

Our Retina UK Peer Support Group network offers information and support via regular meetings both online or in-person.

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Contact our Helpline

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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