GJA3

Cataracts, Congenital Zonular Pulverulent 3

Clinical Characteristics

Ocular Features:

Bilateral dust-like lens opacities are diagnosed at a median age of 5 years but have been seen at 6 months of age. These affect the embryonal, fetal, and infantile nucleus and are often surrounded by snowflake- or needle-like opacities throughout the lens cortex. The dust-like particles may be multicolored and impart a haze to the lens. Evidence for progression is suggested by the fact that about half of such affected patients require cataract surgery as adults. No other ocular abnormalities are present.

There is considerable phenotypic heterogeneity.

Systemic Features:

No systemic abnormalities are associated.

Genetics

Heterozygous mutations in GJA3 (13q11) seem to be responsible for the opacities. For another somewhat similar form of autosomal dominant congenital cataract see Cataracts, Congenital Zonular Pulverulent 1 (116200).

Pedigree:

Autosomal dominant

Treatment

Treatment Options:

Visually significant cataracts may be removed.

References

Article Title:

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. J Med Genet. 2004 Aug;41(8):e106. Erratum in: J Med Genet. 2005 Mar;42(3):288. J Med Genet. 2008 Apr;45(4):256.

PubMed ID:

15286166

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

Rees MI, Watts P, Fenton I, Clarke A, Snell RG, Owen MJ, Gray J. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). Hum Genet. 2000 Feb;106(2):206-9.

PubMed ID:

10746562

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