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Genetic and Rare Diseases Information Center (GARD)

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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)
More Names
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Your Question

My grandson has Lenz microphthalmia syndrome. Is there any information in the medical literaure, research studies, or clinical trials regarding the effectiveness of expansion thoracostomy (VEPTR) for treatment of children with this syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is 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.[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

What skeletal anomalies are associated with Lenz microphthalmia syndrome?

Skeletal anomalies associated with Lenz microphthalmia syndrome, include:[2]
  • Long cylindrical chest cavity (thorax)
  • Sloping narrow shoulders
  • Underdeveloped collarbones (clavicles)
  • Kyphoscoliosis (curving of the spine both side to side as well as front to back, giving a “rounded back” appearance)
  • Lordosis
Last updated: 8/26/2010

Is there any information in the medical literaure regarding research studies or clinical trials demonstrating the effectiveness of expansion thoracostomy (VEPTR) for treatment of children with Lenz microphthalmia syndrome?

Expansion thoracostomy is a surgical procedure to treat thoracic insufficiency syndrome, an inability of the chest cavity to support normal breathing or lung growth. Thoracic insufficiency syndrome may occur as a result of congenital birth defects or syndromes that interfer with the normal growth and development of the rib cage and spine.[3] In children with progressive thoracic insufficiency syndrome (due to spinal deformity), the aims of treatment are to correct and stabilize the spinal deformity, preserve the growth potential of the spine, improve the size, symmetry, and function of the chest cavity, and promote normal lung growth. A vital period for lung growth is from birth to age 8.[3] The shape and degree of deformity required to cause thoracic insufficiency syndrome will vary, requiring careful assesment of the deformity by physicians to anticipate how the deformity might later affect lung volume.[3]

While we are not aware of research studies or clinical trials that evaluated the efficacy of expansion thoracostomy in children with Lenz microphthalmia syndrome specifically; you can find relevant articles on expansion thoracostomy in children with thoracic insufficiency syndrome in general through PubMed.gov. 

PubMed.gov is a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "thoracic insufficiency syndrome AND expansion thoracostomy OR VEPTR" as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search.
http://www.ncbi.nlm.nih.gov/PubMed

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

In addition, the following review articles provide further information on this topic. We recommend that you review the articles with a health care provider. 

Sponseller P, Yazici M, Demetracopoulos C, Emans J. Evidence Basis for Management of Spine and Chest Wall Deformities in ChildrenSpine (Phila Pa 1976). 2007;32(19):S81-S90.

Campbell RM Jr. Spine deformities in rare congenital syndromes: clinical issuesSpine (Phila Pa 1976). 2009 Aug 1;34(17):1815-27.

Richards BS, Sanders JO. Developing outcome measures for pediatric deformity surgerySpine (Phila Pa 1976). 2007 Sep 1;32(19 Suppl):S73-80. 

Yazici M, Emans J. Fusionless instrumentation systems for congenital scoliosis: expandable spinal rods and vertical expandable prosthetic titanium rib in the management of congenital spine deformities in the growing childSpine (Phila Pa 1976). 2009 Aug 1;34(17):1800-7.

The Scoliosis Research Society may be able to provide you with further information on this topic. Their contact information is provided below.

Scoliosis Research Society

555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
USA
Phone: 1-414-289-9107
Fax: 1-414-276-3349
Email: info@srs.org
Web site: www.srs.org  
Last updated: 8/26/2010

References