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What

Lenz microphthalmia syndrome is a rare, inherited genetic disorder that is characterized by small eyes (microphthalmia) and malformations of the eyes, teeth, fingers, skeleton, or genitourinary tract.

Who

The frequency of Lenz microphthalmia syndrome is not known. The majority of reported cases have been in the Caucasian population. In Caucasian children, the incidence of microphthalmia at birth is approximately 1.2 per 10,000 births. Lenz microphthalmia only affects males because it is inherited in a X-linked recessive fashion (see cause below).

Signs and Symptoms

Children with Lenz microphthalmia syndrome may exhibit any of the following: • Small eye size. It is the actual eyeball that is small, and may in some cases be missing entirely. This is associated with decreased vision or total blindness. • 60% of children have coloboma (congenital cleft in parts of the eye). • Small head size • Mental retardation • Cleft lip or palate • Abnormal teeth – irregular teeth spacing, incisors are abnormally shaped • Narrow shoulders, underdeveloped clavicles, webbed neck, exaggerated lower curvature of the spine • Missing components of heart valves • Extra or fused digits. • Undescended testicles, abnormal opening on the penis (hypospadia), abnormal or absent kidneys.

Possible Causes

The specific gene defect responsible for Lenz microphthalmia syndrome has not yet been discovered; however the gene is located on the X chromosome. Males who inherit the affected X chromosome from their mothers are affected. Females with one abnormal X chromosome are not affected but “carry” the disease and could potentially pass it to their male children.

Diagnosis

Making the diagnosis of Lenz microphthalmia syndrome depends upon recognizing the characteristic facial features and the other findings listed above that may also be present. Your doctor may order a special type of ultrasound called A-scan ultrasonography that can measure the width of the eye socket and detect mild microphthalmia. Additional imaging studies such as CT (computerized tomography) and MRI (magnetic resonance imaging) of the brain, chest, and abdomen may be needed to evaluate for associated anomalies.

Treatment

There is no cure for Lenz microphthalmia syndrome. The key to successful supportive treatment for affected children is early intervention with physical therapy and referral to the appropriate specialists depending on the nature of any other associated anomalies. Close monitoring and care with a pediatric ophthalmologist is essential to maximize any remaining vision. Referrals to the neurologist, occupational therapist, nephrologists (if kidneys are abnormal), and cardiologist are all appropriate. Lifetime services for the blind and special education should be sought out in school-aged children.

Prognosis

Children with Lenz microphthalmia syndrome can live normal life spans if their non-visual disabilities are mild.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

gene Reviews http://www.geneclinics.org/profiles/lenz/ Good summary of disease facts and management geared for healthcare professional. National Organization for Rare Disorders http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Lenz%20Microphthalmia%20Syndrome Well organized, concise source of information about the disease process. International Children’s Anophthalmia Network http://www.anophthalmia.org/ Well put together website focusing on eye disorders in children. National Association for Parents of the visually impaired http://www.spedex.com/napvi Good resource for families who need to reach out to other families. National Federation of the Blind http://www.nfb.org National website dedicated for the blind. National Eye Institute http://www.nei.nih.gov/health/anoph/ National resource for families.

Google Search for Lenz Microphthalmia Syndrome

References and Sources

Ozkinay, FF., et al. (1997) A case of Lenz microphthalmia syndrome. J. Med Genet. Vol 34 (7): 604-4. Glanz, A., et al. (1983) Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies. Can J Ophthalmol. Vol 18 (1): 41-4.