Microphthalmia syndromic 1

Common Name(s)

Microphthalmia syndromic 1, Lenz microphthalmia syndrome

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.  Around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe. 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microphthalmia syndromic 1" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.