Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Congenital and Genetic Diseases; Eye diseases
Cone-rod dystrophy (CRD) is a group of
There are over 30 types of CRD caused by
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
Poor night vision
[ more ]
Extreme sensitivity of the eyes to light
[ more ]
|30%-79% of people have these symptoms|
|Color vision defect||
Abnormal color vision
Abnormality of color vision
[ more ]
|5%-29% of people have these symptoms|
Loss of eyesight
[ more ]
Possible future treatments for CRD may include:
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes other hereditary cone disorders (including achrompatopsia and allied cone dysfunction syndromes, cone dystrophy and Stargardt disease) and the rod-cone dystrophy, also known asretinitis pigmentosa, which is distinguished by the sequence of photoreceptor involvement (rod photoreceptors followed by cone photoreceptors).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
National Alliance for Eye and Vision Research (NAEVR)
5515 Security Lane
Rockville, MD 20852
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cone-rod dystrophy. Click on the link to view a sample search on this topic.
- Heckenlively J. Cone Dystrophy. NORD. 2010; https://rarediseases.org/rare-diseases/cone-dystrophy/.
- cone-rod dystrophy. Genetics Home Reference. February 2016; https://ghr.nlm.nih.gov/condition/cone-rod-dystrophy.
- Hamel C. Cone rod dystrophy. Orphanet. February 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1872.
- Sahel JA, Marazova K, Audo I. Clinical characteristics and current therapies for inherited retinal degenerations. Cold Spring Harb Perspect Med. Oct 16, 2014; 5(2):https://www.ncbi.nlm.nih.gov/pubmed/25324231.
- Benjamin M. Nash, Dale C. Wright, John R. Grigg, Bruce Bennetts, Robyn V. Jamieson. Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Translational Pediatrics. April 2015; 4(2):139-163. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729094/.
- Santos-Ferreira T, Völkner M, Borsch O, et al. Stem Cell-Derived Photoreceptor Transplants Differentially Integrate Into Mouse Models of Cone-Rod Dystrophy. Invest Ophthalmol Vis Sci. June 1 2016; 57(7):3509-20. https://www.ncbi.nlm.nih.gov/pubmed/27367586.