Anophthalmia

Case contributed by Dr Vivek Pai

Presentation

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

Patient Data

Age: 30
Gender: Female
Ultrasound

Antenatal ultrasound

Absence of occular tissue is noted 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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Case information

rID: 27085
Case created: 20th Jan 2014
Last edited: 23rd Sep 2017
System: Obstetrics
Inclusion in quiz mode: Included

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