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At a glance

This is a medical condition characterized by the association of congenital cataract and microcornea without other systemic anomaly or dysmorphism.

Synonym

Microcornea Cataract Syndrome.

Incidence

Fewer than 50 patients from 15 families have been described in the literature.

Genetic inheritance

It is inherited as autosomal dominant. Mutations have been identified in several crystallin genes (CRYAA, CRYBB1, CRYGD), and in the gap junction protein alpha 8 (GJA8) gene. Mutations have also been identified in the ABCA3 gene.

Clinical aspects

Dysplastic malformation of the anterior segment of the eye characterized by the combination of congenital cataract and microcornea. The corneal diameter is less than 11 mm in both meridians in an otherwise normal eye. An inherited cataract is usually characterized by bilateral posterior polar opacification in the lens periphery. The cataract progresses and normally requires extraction in the first to third decade of life. Occasionally, other ocular anomalies such as iris coloboma, sclerocornea, myopia, or Peters anomaly (central corneal opacity associated with abnormal corneal development that may result in cataract, adhesions of the iris to the cornea, and glaucoma) may be present.

Anesthetic considerations

No known specific anesthetic problems or other associated abnormalities.

Other condition to be considered

  • Nance-Horan Syndrome: Very rare congenital disorder combining cataract and dental anomalies.

References

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Chen  P, Dai  Y, Wu  X,  et al: Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. Invest Ophthalmol Vis Sci 55:8031–8043, 2014.  [PubMed: 25406294]
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Green  JS, Johnson  GJ: Congenital cataract with microcornea and Peters’ anomaly as expressions of one autosomal dominant gene. Ophthalmic Paediatr Genet 7:187, 1986.  [PubMed: 3550563]
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Salmon  JF, Wallis  CE, Murray  AD: Variable expressivity of autosomal dominant microcornea with cataract. Arch Ophthalmol[Archives of Ophthalmology Full Text] 106:505, 1988.  [PubMed: 3355418]

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