Coppock-like cataract refers to a dust-like opacity of the fetal nucleus with frequent involvement of the zonular lens.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of eye, ear, face and neck
2q33-q35,22q11.2-q12.2
Coppock-like cataract refers to a dust-like opacity of the fetal nucleus with frequent involvement of the zonular lens.
Coppock-like cataract is usually dominantly inherited. This disease can be caused by mutation in the CRYGC gene on chromosome 2 or by mutation in the CRYBB2 gene on chromosome 22.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 604307.G.1 | Saudi Arabia | Unknown | Yes | Cataract; Juvenile onset; Microcornea Cataract; Juvenile onset; Microcornea  | NM_020989.4:c.403G>T | Heterozygous | Autosomal, Dominant | Patel et al. 2017 | 7 patients |
[See: Saudi Arabia > Hegab et al., 1991].
Hegab et al. (1991) described the first case of Coppock cataracts in an Arab family. The affected patients were a pair of sisters born to first cousin consanguineous parents. The elder sister presented with a left convergent squint and photophobia at the age of 3-years. Upon examination, she showed a bilaterally symmetrical small central round ball of diffuse powdery grey-white opacities, surrounded by a thin layer of semi-opaque lens fibers. The younger sister presented with photophobia, but no squint, at 2-years of age. She was also found to have similar lesions centrally in both lenses. She had no hypermetropia, but had an astigmatism of +1.00 dioptre, axis vertical in both eyes. Both parents had normal lenses with normal visual acuity, prompting Hegab et al. (1991) to postulate an autosomal recessive mode of inheritance in this case. Both the parents and the children had Duffy blood groups Fy a-b+, which Hegab et al. (1991) interpreted as being insufficient evidence either for or against linkage.