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Disease Profile
Birdshot chorioretinopathy
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.
1-9 / 1 000 000
Age of onset
Adult
ICD-10
H30.1
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
BSCR; Multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk; Birdshot chorioretinitis;
Categories
Eye diseases
Summary
Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina. These spots are scattered in a "birdshot" pattern. The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems. Symptoms typically begin around middle age; Caucasians are affected more than individuals of other ethnicities. The cause of birdshot chorioretinopathy is currently unknown, but it is suspected to be an
Symptoms
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 |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal chorioretinal morphology | 0000532 | |
Cystoid macular edema | 0011505 | |
Ocular |
High eye pressure
|
0007906 |
Photoreceptor layer loss on macular OCT | 0030609 | |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
Vitritis | 0011531 | |
30%-79% of people have these symptoms | ||
Attenuation of retinal blood vessels |
Narrowing of blood vessels in back of eye
|
0007843 |
Blind-spot enlargment | 0030644 | |
Blurred vision | 0000622 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Epiretinal membrane | 0100014 | |
Inflammatory abnormality of the eye | 0100533 | |
Macular hole | 0011508 | |
Macular scar | 0200056 | |
Optic disc pallor | 0000543 | |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Retinal thinning | 0030329 | |
Vitreous floaters |
Eye floaters
Spots in front of eyes
[ more ] |
0100832 |
5%-29% of people have these symptoms | ||
Arcuate scotoma | 0030530 | |
Choroidal neovascularization | 0011506 | |
Retinal detachment |
Detached retina
|
0000541 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Posterior uveitis | 0012123 | |
Retinal pigment epithelial atrophy | 0007722 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Treatment
Related diseases
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
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The differential diagnoses are those diseases that produce white dots in choroid and retina; they include white dot syndromes, vogt-Koyanagi-Harada disease, infectious etiologies (Lyme disease, tuberculosis, toxoplasmosis) and primary intraocular lymphoma (masquerade syndromes) (see these terms).
Visit the Orphanet disease page for more information.
|
Learn more
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.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Birdshot chorioretinopathy. Click on the link to view a sample search on this topic.
References
- Samson CM. Birdshot Retinopathy. Medscape Reference. November 2011; https://emedicine.medscape.com/article/1223257-overview. Accessed 3/21/2012.
- Monnet D, Brézin AP. Birdshot chorioretinopathy. Current Opinion in Ophthalmology. 2006; 17:545-550. https://www.ncbi.nlm.nih.gov/pubmed/17065923/. Accessed 3/21/2012.
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