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Lenz Microphthalmia Syndrome

Abstract

CLINICAL CHARACTERISTICS

Lenz microphthalmia syndrome (LMS) is characterized by unilateral or bilateral microphthalmia and/or clinical anophthalmia with malformations of the ears, teeth, fingers, skeleton, and/or genitourinary system. Microphthalmia is often accompanied by microcornea and glaucoma. Coloboma is present in approximately 60% of microphthalmic eyes with severity ranging from isolated iris coloboma to coloboma of the ciliary body, choroid, and optic disk. Ears may be low set, anteverted, posteriorly rotated, simple, cup shaped, or abnormally modeled. Hearing loss has been observed. Dental findings include irregularly shaped, missing, or widely spaced teeth. Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated lumbar lordosis, long cylindric thorax, and webbed neck. Genitourinary anomalies include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter. Approximately 60% of affected males have mild-to-severe intellectual disability or developmental delay.

DIAGNOSIS/TESTING

The diagnosis of Lenz microphthalmia syndrome is based on clinical findings. Mild simple microphthalmia can be identified by measuring the axial length of the globe with A-scan ultrasonography. NAA10 (MCOPS1 locus) and BCOR (MCOPS2 locus) are the only genes known to be associated with Lenz microphthalmia syndrome (LMS).

MANAGEMENT

Treatment of manifestations: For clinical anophthalmos or extreme microphthalmos: regular evaluation by an ocularist for placement of serial enlarging orbital expanders, physical and occupational therapy, special education, and referral to services for the blind. For hearing loss and sleep disorders: treatment dependent on the specific defect and similar to that used in the general population. Institute regular dental examinations and cleaning should be instituted, especially when cognitive developmental delay is present; dental treatment as for the general population. Surveillance: Annual ophthalmologic examination for those with residual vision, monitoring of renal function, developmental assessments, and lifelong case management to help affected individuals gain access to social services and assistive devices for the blind.

GENETIC COUNSELING

Lenz microphthalmia syndrome is inherited in an X-linked manner. The risk to sibs depends on the carrier status of the mother. If the mother is a carrier, the chance of transmitting the pathogenic variant is 50% in each pregnancy: males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers. The majority of males with Lenz microphthalmia syndrome do not reproduce. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible for families in which the pathogenic variant has been identified in an affected family member. Prenatal ultrasound examination at 18 weeks' gestation can be offered for pregnancies at increased risk to evaluate fetal renal development.

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  • Authors

    , , , , , ,

    Publisher

    University of Washington, Seattle
    Seattle (WA)

    Language

    eng

    PubMed ID

    20301694

    Citation

    Ng D: Lenz Microphthalmia Syndrome.GeneReviews®. Edited by Adam MP, et al: University of Washington, Seattle, 1993, Seattle (WA).
    Ng D. Lenz Microphthalmia Syndrome. Edited by Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
    Ng D. (1993). Lenz Microphthalmia Syndrome. Edited by Adam MP & Ardinger HH & Pagon RA, et al. In GeneReviews®. Seattle (WA): University of Washington, Seattle;
    Ng D. Edited by Adam MP, et al. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
    * Article titles in AMA citation format should be in sentence-case
    TY - CHAP T1 - Lenz Microphthalmia Syndrome BT - GeneReviews® A1 - Ng,David, Y1 - 1993/// PY - 2014/10/2/pubmed PY - 2014/10/2/medline PY - 2010/3/20/entrez N2 - CLINICAL CHARACTERISTICS: Lenz microphthalmia syndrome (LMS) is characterized by unilateral or bilateral microphthalmia and/or clinical anophthalmia with malformations of the ears, teeth, fingers, skeleton, and/or genitourinary system. Microphthalmia is often accompanied by microcornea and glaucoma. Coloboma is present in approximately 60% of microphthalmic eyes with severity ranging from isolated iris coloboma to coloboma of the ciliary body, choroid, and optic disk. Ears may be low set, anteverted, posteriorly rotated, simple, cup shaped, or abnormally modeled. Hearing loss has been observed. Dental findings include irregularly shaped, missing, or widely spaced teeth. Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated lumbar lordosis, long cylindric thorax, and webbed neck. Genitourinary anomalies include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter. Approximately 60% of affected males have mild-to-severe intellectual disability or developmental delay. DIAGNOSIS/TESTING: The diagnosis of Lenz microphthalmia syndrome is based on clinical findings. Mild simple microphthalmia can be identified by measuring the axial length of the globe with A-scan ultrasonography. NAA10 (MCOPS1 locus) and BCOR (MCOPS2 locus) are the only genes known to be associated with Lenz microphthalmia syndrome (LMS). MANAGEMENT: Treatment of manifestations: For clinical anophthalmos or extreme microphthalmos: regular evaluation by an ocularist for placement of serial enlarging orbital expanders, physical and occupational therapy, special education, and referral to services for the blind. For hearing loss and sleep disorders: treatment dependent on the specific defect and similar to that used in the general population. Institute regular dental examinations and cleaning should be instituted, especially when cognitive developmental delay is present; dental treatment as for the general population. Surveillance: Annual ophthalmologic examination for those with residual vision, monitoring of renal function, developmental assessments, and lifelong case management to help affected individuals gain access to social services and assistive devices for the blind. GENETIC COUNSELING: Lenz microphthalmia syndrome is inherited in an X-linked manner. The risk to sibs depends on the carrier status of the mother. If the mother is a carrier, the chance of transmitting the pathogenic variant is 50% in each pregnancy: males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers. The majority of males with Lenz microphthalmia syndrome do not reproduce. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible for families in which the pathogenic variant has been identified in an affected family member. Prenatal ultrasound examination at 18 weeks' gestation can be offered for pregnancies at increased risk to evaluate fetal renal development. PB - University of Washington, Seattle CY - Seattle (WA) UR - https://www.unboundmedicine.com/medline/citation/20301694/GeneReviews®:_Lenz_Microphthalmia_Syndrome L2 - https://www.ncbi.nlm.nih.gov/books/NBK1521 DB - PRIME DP - Unbound Medicine ER -