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Anophthalmia

Case contributed by Vivek Pai
Diagnosis certain

Presentation

Primiparous 30 years old patient referred for an anomaly scan with no relevant past or family history.

Patient Data

Age: mid-trimester
Gender: Female

Antenatal ultrasound

ultrasound

Transverse gray scale image through the orbits shows absence of ocular tissue bilaterally.

Case Discussion

Causes:

  • idiopathic/sporadic

  • inherited as dominant, recessive, or sex-linked

  • chromosome deletion in band 14q22-23 with associated polydactyly, as well as a deletion in 7 p15.1-21.1 associated with cryptophthalmos/anophthalmos

  • trisomy 13-15

  • genetic deletions involving SOX2, SIX6, and STRA6, with many new microdeletions being reported, including within PAX6, RAX, and SMOC1.

  • maternal infections during pregnancy (ie, rubella, toxoplasmosis)

  • often associated with syndromes with craniofacial malformation (Goldenhar syndrome, Hallermann-Streiff syndrome)

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