Disease Profile

Congenital primary aphakia

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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of Onset

Infancy

ageofonset-infancy.svg

ICD-10

Q12.3

Inheritance

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

no.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other Names (AKA)

Aphakia, congenital primary; CPA

Categories

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases

Summary

Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion.[1][2] Click here to view a diagram of the eye.

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
Congenital aphakia
0007707
Microphthalmia
Abnormally small eyeball
0000568
30%-79% of people have these symptoms
Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

0000504
Retinal dysplasia
0007973
Sclerocornea
Hardening of skin and connective tissue
0000647
Percent of people who have these symptoms is not available through HPO
Aniridia
Absent iris
0000526
Anterior segment of eye aplasia
0007779
Autosomal recessive inheritance
0000007
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Coloboma
Notched pupil
0000589
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ocular hypertension
High eye pressure
0007906
Peters anomaly
0000659
Posterior synechiae of the anterior chamber
0011484

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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 Congenital primary aphakia. Click on the link to view a sample search on this topic.

References

  1. Congenital primary aphakia. Orphanet. December 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83461. Accessed 9/7/2011.
  2. Aphakia, primary congenital. Online Mendelian Inheritance of Man (OMIM). https://omim.org/entry/610256. Accessed 9/7/2011.