Anophthalmos Clinical Presentation

Updated: Mar 25, 2016
  • Author: Nick Mamalis, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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Presentation

History

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]

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Physical

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.
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Causes

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)
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