Rare Oncology News

Disease Profile

Progressive bifocal chorioretinal atrophy

Prevalence
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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

Chorioretinal atrophy, progressive bifocal; PBCRA; CRAPB

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

Progressive bifocal chorioretinal dystrophy (PBCRA) is an inherited condition of the eye characterized by a large wasted region of the macula, lesions in the area of the retina closest to the nose (the nasal retina), nystagmus (fast, uncontrollable movements of the eyes), myopia (nearsightedness), poor vision, and slow disease progression.[1][2] Widespread abnormalities of rod and cone function has been described.[2] PBCRA is caused by mutations in a gene which has mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. It is inherited in an autosomal dominant fashion.[1] To date, there is no effective treatment for this condition.[3]

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
Chorioretinal dystrophy
0001135
Esotropia
Inward turning cross eyed
0000565
Macular atrophy
0007401
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
5%-29% of people have these symptoms
Pigmentary retinopathy
0000580
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Chorioretinal atrophy
0000533
Retinal detachment
Detached retina
0000541

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

  • 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 Progressive bifocal chorioretinal atrophy. Click on the link to view a sample search on this topic.

References

  1. Progressive bifocal chorioretinal atrophy. Orphanet. September 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75373. Accessed 2/6/2013.
  2. Godley BF, Tiffin PA, Evans K, Kelsell RE, Hunt DM, Bird AC. Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. Ophthalmology. June 1996; https://www.ncbi.nlm.nih.gov/pubmed/8643244. Accessed 2/6/2013.
  3. Myron Yanoff, Jay S Duker . Ophthalmology. Mosby Elsevier ; 2009;