Cataracts 34

Clinical Characteristics

Ocular Features:

Two families with mutations in the FOXE3 associated with cataracts have been reported. The lens opacities may be present at birth or found soon thereafter. In 1 family with 5 affected sibs membranous cataracts were present along with corneal opacities, microcornea and nystagmus. In another family, 7 sibs had posterior subcapsular cataracts but no other ocular findings.

Systemic Features:

No systemic abnormalities were associated with the ocular findings.

Genetics

Homozygous mutations in the FOXE3 (1p33) gene segregated with the eye findings in the two families. FOXE3 is a transcription gene and its mutations are responsible for a variety of ocular abnormalities.

Treatment

Treatment Options:

Surgical cataract removal may be indicated. Amblyopia is a risk and requires rehabilitation.

References

Article Title:

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 [1]

Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA. FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. Nat Commun. 2016 Apr 6;7:10953. doi: 10.1038/ncomms10953. PubMed PMID: 27218149; PubMed Central PMCID: PMC4820811.

PubMed ID:

27218149

Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p [2]

Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, Husnain T, Riazuddin S, Hejtmancik JF, Riazuddin SA. Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis. 2007 Sep 10;13:1635-40.

PubMed ID:

17893665