LEMD2

Cataracts 46, Juvenile-Onset

Clinical Characteristics
Ocular Features: 

This type of cataract has been found among the Lehrerleut Hutterites and in the population of the Aland Islands, Finland.  It may have its onset in infancy but usually is diagnosed between the ages of 3 to 9 years, beginning as cortical lens opacities and progressing to maturity in 1-3 months.  Some individuals have subcapsular opacifications, both anterior and posterior.  In early stages there may be a diffuse haze throughout the lens.  The degree of opacification can be highly asymmetrical.

Systemic Features: 

A number of Hutterite patients in the reported pedigree have suffered sudden death presumably of arrhythmogenic origin in the third through fifth decades of life.

Genetics

Homozygous mutations in LEMD2 (6p21.32-p21.31) are responsible for this type of cataract.  It is uncertain if sudden death is an association or part of the phenotype resulting from these mutations.  However, all except one of the pedigree members experiencing sudden death had cataracts.   This feature was not mentioned in the 1985 report of juvenile cataracts in the Hutterite population.

The gene product of LEMD2 is expressed in both the mouse and human lens.  Indirect evidence also suggests it plays a role in heart development and cardiomyopathy.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

Cataract removal results have been good.

References
Article Title: 

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2015 Nov 14;4(1):77-94.

PubMed ID: 
26788539
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