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Lenz microphthalmia syndrome
Other Names for this Disease
- Lenz dysplasia
- MAA (formerly)
- MCOPS1
- Microphthalmia Lenz type
- Microphthalmia or anophthalmos with associated anomalies (formerly)
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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]
References
- Lenz microphthalmia syndrome. Genetic Home Reference. http://www.ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome. Accessed August 25, 2010.
- Lenz microphthalmia syndrome. GeneTests. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lenz. Accessed August 25, 2010.
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General Information
- Genetics Home Reference (GHR) contains information on Lenz microphthalmia syndrome. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Lenz microphthalmia syndrome. Click on the link to go to OMIM and review these resources.