Primiparous patient referred for an anomaly scan with no relevant past or family history.
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Absence of occular tissue is noted bilaterally.
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/anophthamos
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)