Alternate Names

OMIM

Inheritance and Genes

autosomal dominant
17p13 locus

Clinical Features

Resources

Patient Information

Related Images

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Anterior polar cataract
Anterior Polar Cataract (Courtesy of EyeRounds.org)
Anterior polar cataract
Anterior Polar Cataract (Courtesy of EyeRounds.org)

Cataracts, Anterior Polar 2

Clinical Characteristics

Ocular Features

Lens opacities are located in the central anterior capsule and cortex.  They usually do not interfere significantly with vision.

Systemic Features

None.

Genetics

Most cases probably occur sporadically but multigenerational families have been reported in which the transmission pattern is autosomal dominant.  In one family the phenotype was mapped to 17p13 but the gene responsible has not been identified.

Another type (CTAA1) of anterior polar cataract is associated with chromosomal aberrations (115650).

Yet another form of autosomal dominant anterior polar cataract is associated with corneal disease (Cataracts, Anterior Polar with Guttata) (121390).

Other cataracts that map to chromosome 17 are zonular sutural cataract (600881) with a locus at 17q11-q12 and cerulean or ‘blue dot’ cataract (115660) at 17q24.

Treatment Options

Lens removal is indicated only if these opacities interfere with vision.

References

Berry V, Ionides AC, Moore AT, Plant C, Bhattacharya SS, Shiels A. A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum Mol Genet. 1996 Mar;5(3):415-9.

PubMed ID: 
8852669

Moross T, Vaithilingam SS, Styles S, Gardner HA. Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. J Med Genet. 1984 Feb;21(1):52-3.

PubMed ID: 
6694185