The retinal changes start with thinning of the macula, the central part of the retina that is responsible for our central vision. A large number of cone-shaped photoreceptors, responsible for colour vision, are found here. The cones deteriorate ahead of the rod photoreceptors in cone-rod dystrophy.
Patients present in childhood at an average age of 11 years with reduced visual acuity, symptoms of blur, reduced colour vision and central patches of missing vision. Later on, problems with night vision occurs.
As the disease progresses pigment changes in the retina develop. Recessive inheritance is most common, found in 90% of cases, with ABCA4 the most commonly identified gene. Stargardt disease is a specific type of cone-rod dystrophy, as is Best disease.
Further detailed information is available from:
- gene.vision/knowledge-base/cone-cone-rod-dystrophy-for-patients/ (for patients)
- gene.vision/knowledge-base/cone-cone-rod-dystrophy-for-professionals/ (for professionals)
Join our lived experience panel
If you would like to get involved in representing the inherited sight loss community through activities like focus groups, surveys and research projects, join our Experience Panel.