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Diseases

Genetic and Rare Diseases Information Center (GARD)

Lenz microphthalmia syndrome


Other Names for this Disease
  • Microphthalmia syndromic 1
  • MCOPS1
  • Lenz dysplasia
  • Syndromic microphthalmia type 1
  • MAA (formerly)
Related Diseases
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Overview

Lenz microphthalmia syndrome is a genetic disorder that causes abnormal development of the eyes and several other parts of the body.  Eye symptoms vary, but may include underdeveloped (small) or absent eyes, cataract, nystagmus, coloboma (a gap or split in structures that make up the eye), and glaucoma. Eye symptoms may affect one or both eyes and may cause vision loss or blindness.  Other signs and symptoms may include abnormalities of the ears, teeth, hands, skeleton, urinary system and occasionally heart defects.[1]  Around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe.[2] Mutations in the BCOR gene cause some cases of Lenz microphthalmia syndrome. The other causative gene(s) have yet to be identified. This condition is inherited in an X-linked recessive fashion.[1][2]
Last updated: 8/26/2010

References

  1. Lenz microphthalmia syndrome. Genetics Home Reference. 2008; http://www.ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome. Accessed 8/25/2010.
  2. Lenz microphthalmia syndrome. GeneTests. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lenz. Accessed 8/25/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Lenz microphthalmia syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Lenz microphthalmia syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Microphthalmia syndromic 1
  • MCOPS1
  • Lenz dysplasia
  • Syndromic microphthalmia type 1
  • MAA (formerly)
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.