What are the other Names for this Condition? (Also known as/Synonyms)

• Lenz Dysplasia
• Microphthalmia Syndromic 1 (MCOPS1)
• Syndromic Microphthalmia Type 1

What is Lenz Microphthalmia Syndrome? (Definition/Background Information)

• 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

(Source: Lenz Microphthalmia Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Lenz Microphthalmia Syndrome? (Age and Sex Distribution)

• Lenz Microphthalmia Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Lenz Microphthalmia Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Lenz Microphthalmia Syndrome can be inherited

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Lenz Microphthalmia Syndrome? (Etiology)

• 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

(Source: Lenz Microphthalmia Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Lenz Microphthalmia Syndrome?

The signs and symptoms of Lenz Microphthalmia Syndrome may include:

• Abnormal palmar dermatoglyphics
• Abnormality of the pinna
• Aganglionic megacolon
• Agenesis of maxillary lateral incisor
• Aggressive behavior
• Anal atresia
• Anophthalmia
• Bicuspid aortic valve
• Camptodactyly
• Ciliary body coloboma
• Cleft upper lip
• Dental crowding
• Down-sloping shoulders
• Growth delay
• High, narrow palate
• Joint contracture of the hand
• Kyphoscoliosis
• Low-set ears
• Lumbar hyperlordosis
• Motor delay
• Muscular hypotonia
• Narrow chest
• Overfolded helix
• Pectus excavatum
• Ptosis
• Pyloric stenosis
• Radial deviation of finger
• Rectal prolapse
• Recurrent otitis media
• Renal hypoplasia
• Self-mutilation
• Short clavicles
• Spastic diplegia
• Syndactyly

Very frequently present symptoms in 80-99% of the cases: Microphthalmia; presence of small eye(s) with defects.

Frequently present symptoms in 30-79% of the cases:

• Abnormality of dental morphology
• Camptodactyly of finger
• Chorioretinal coloboma
• Clinodactyly of the fifth finger
• Complete duplication of thumb phalanx
• Cryptorchidism
• External ear malformation
• Finger syndactyly
• Glaucoma
• Hydronephrosis
• Hydroureter
• Hypospadias
• Intellectual disability
• Iris coloboma
• Low-set, posteriorly rotated ears
• Microcephaly
• Microcornea
• Optic nerve coloboma
• Oral cleft
• Renal hypoplasia/aplasia

Occasionally present symptoms in 5-29% of the cases:

• Abnormality of cardiovascular system morphology
• Abnormality of the clavicle
• Abnormality of the shoulder
• Ankyloblepharon
• Aplasia/Hypoplasia of the corpus callosum
• Autistic behavior
• Cataract
• Delayed eruption of teeth
• Hearing impairment
• Hyperlordosis
• Kyphosis
• Long thorax
• Neurological speech impairment
• Nystagmus
• Preauricular skin tag
• Pulmonary hypoplasia
• Scoliosis
• Seizures
• Self-injurious behavior
• Visual impairment
• Webbed neck

(Source: Lenz Microphthalmia Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Lenz Microphthalmia Syndrome Diagnosed?

Lenz Microphthalmia Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Lenz Microphthalmia Syndrome?

The complications of Lenz Microphthalmia Syndrome may include:

• Blindness
• Dysfunction of vital organs including the kidney, lungs, heart, and brain
• Severe intellectual impairment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Lenz Microphthalmia Syndrome Treated?

There is no cure for Lenz Microphthalmia Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Lenz Microphthalmia Syndrome be Prevented?

Currently, Lenz Microphthalmia Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Lenz Microphthalmia Syndrome? (Outcomes/Resolutions)

• The prognosis of Lenz Microphthalmia Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Lenz Microphthalmia Syndrome:

Lenz Microphthalmia Syndrome is also known by the following names:

• Microphthalmia or Anophthalmos with Associated Anomalies (formerly)
• Microphthalmia, Lenz type

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/diseases-conditions/rare-disorders/