Anophthalmos Clinical Presentation

Updated: Mar 25, 2016
  • Author: Nick Mamalis, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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The defect occurs in utero and is congenital. Children with anophthalmos are born with a unilaterally small orbit and no visible ocular tissue within the orbit. [7]



Physical findings are as follows. [8, 9, 5, 10]

Orbital findings may include the following:

  • Small orbital rim and entrance

  • Reduced size of the bony orbital cavity

  • Extraocular muscles are usually absent.

  • Lacrimal gland and ducts may be absent.

  • Small and maldeveloped optic foramen

Eyelid findings may include the following:

  • Foreshortening of the lids in all directions

  • Absent or decreased levator function with decreased lid folds

  • Contraction of orbicularis oculi muscle

  • Shallow conjunctival fornix, especially inferiorly

Globe findings may include the following:

  • Globe is completely absent in primary anophthalmos.

  • Extremely small and malformed globe is seen in microphthalmos.

  • Congenital cataract associated with microphthalmos

Systemic findings may include the following:

  • Hypoplasia of the optic nerve

  • Absence or dysplasia of septum pellucidum

  • Pituitary gland dysfunction and male genital abnormalities (if in conjunction with mutations of SOX2 gene)

  • Sensorineural hearing loss

  • Cleft lip/palate

  • Cardiac anomalies: Hemitruncus arteriosum, vetricular septal defects, and pulmonary hypertension.



Causes of anophthalmos include the following:

  • Idiopathic/sporadic

  • Inherited as dominant, recessive, or sex linked

  • Chromosome deletion in band 14q22-23 with associated polydactyly, [11] as well as a deletion in 7 p15.1-21.1 associated with cryptophthalmos/anophthalmos [12]

  • Trisomy 13-15

  • Genetic deletions involving SOX2 (10-20% of anophthalmia) [13, 5] ; SIX6; and STRA6; with many new microdeletions being reported, including within PAX6, RAX, and SMOC1 [14] ; OTX2 (3% of anophthalmia); VSX2; FOXE3; BMP4; GDF6; and ALDH1A3 (involved in cellular retinoic acid synthesis). [15]

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

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