Central Areolar Choroidal Dystrophy
What is Central Areolar Choroidal Dystrophy?
Central areolar choroidal dystrophy (CACD) is a hereditary disorder that affects the macula, an area within the eye specialized in the perception of visual details. There is a progressive degeneration (atrophy) of the tissue in the macula that affects several structures including the photoreceptors (the cells that process the visual stimuli), the retinal pigment epithelium (a layer of tissue that feeds the visual cells) and the blood vessels in the area (choriocapillaries). As a consequence, there is a progressive decrease in visual acuity.
CACD usually onsets between the ages of 30 to 60.
Several genes have linked to CACD, with GUCY2D and PRPH2 being the most prevalent (the most frequently altered in individuals with CACD). Both genes provide the instructions for making proteins that play essential roles in normal vision.
Central areolar choroidal dystrophy (CACD) is a hereditary disorder that affects the macula, an area within the eye specialized in the perception of visual details. There is a progressive degeneration (atrophy) of the tissue in the macula that affects several structures including the photoreceptors (the cells that process the visual stimuli), the retinal pigment epithelium (a layer of tissue that feeds the visual cells) and the blood vessels in the area (choriocapillaries). As a consequence, there is a progressive decrease in visual acuity.
CACD usually onsets between the ages of 30 to 60.
Several genes have linked to CACD, with GUCY2D and PRPH2 being the most prevalent (the most frequently altered in individuals with CACD). Both genes provide the instructions for making proteins that play essential roles in normal vision.
3.33http://www.orpha.net
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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