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Bilateral Clinical Anophthalmos. Caleb Sawyer, MD Resident Jorge Corona, MD Faculty Advisor. Case Presentation. 4 y/o Hispanic female with bilateral clinical anophthalmos Profound developmental delay Otherwise healthy Fitted with conformers 3 times since birth. Definitions.

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bilateral clinical anophthalmos

Bilateral Clinical Anophthalmos

Caleb Sawyer, MD

Resident

Jorge Corona, MD

Faculty Advisor

case presentation
Case Presentation
  • 4 y/o Hispanic female with bilateral clinical anophthalmos
  • Profound developmental delay
  • Otherwise healthy
  • Fitted with conformers 3 times since birth
definitions
Definitions
  • Anophthalmia = complete absence of an eye
  • Clinical anophthalmia = small cystic remnant of globe is seen on pathologic examination
  • Microphthalmos = grossly visible, but small malformed globe
pathophysiology
Pathophysiology
  • Anophthalmia: Neuroectoderm of the primary optic vesicle fails to develop properly from the anterior neural plate of the neural tube during week 1-4 of embryological development.
  • Microphthalmia: development problem with optic vesicle in week 4 or later
morbidity
Morbidity
  • Outgrowth of the globe drives growth and development of the bony orbit .
  • Prevents fitting of prosthesis
  • Unilateral anophthalmos  hemifacial hypoplasia
  • Bilateral anophthalmos  central hypoplasia
associated ocular findings
Associated Ocular Findings
  • Orbital findings
    • Small orbital rim and entrance
    • Reduced size of bony orbital cavity
    • Extraocular muscles usually absent
    • Lacrimal gland may be absent
    • Small and maldeveloped optic foramen
  • Eyelid findings
    • 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
rare condition
Rare Condition
  • U.S. congenital anophthalmos prevalence rate of 3 per 100,000.
  • Spanish Study of 1.1 million births:
      • 36/100,000 with eye malformations
      • 23/100,000 with anophthalmia/microphthalmia
  • No racial predilection
  • No sex predilection
causes
Causes
  • Idiopathic/sporadic
  • Inherited as dominant, recessive, or sex-linked
  • Chromosome deletion in band 14q22-23 with associated polydactyly
  • Trisomy 13-15
  • Maternal infections or teratogenic exposure
  • 75% associated with syndromes
role of head orbit ct or mri
Role of head/orbit CT or MRI
  • Look for extremely microphthalmic globe
  • Bilateral anophthalmos
    • associated absence of the optic chiasm
    • dysgenesis of the corpus callosum
  • Unilateral anophthalmos may have severe craniofacial anomalies
treatment options
Treatment Options
  • Progressive conformers
      • Easily extruded
  • Balloon expanders
      • Easily extruded and require cooperation
  • Progressive orbital implants
      • Require multiple surgeries
  • Hydrogel tissue expander implant
      • Good early results
      • Late complications in scleral buckling
complications
Complications
  • Significant cosmetic deformities if not treated early
  • Fitted prostheses are completely immobile.
  • Shortened and immobile eyelids
  • Even with treatment, results often are cosmetically disappointing.
patient education
Patient Education
  • Treatment will be long and complicated
  • Multiple surgical treatments throughout a patient’s lifetime
  • Consider genetic counseling in familial cases
references
References
  • Bermejo E, Martinez-Frias ML. “Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain.”Am J Med Genet. 1998 Feb 17;75(5):497-504.
  • Chen D, Heher K. “Management of the anophthalmic socket in pediatric patients.” Curr Opin Ophthalmol. 2004 Oct;15(5):449-53. Review.
  • Dunaway DJ, David DJ. “Intraorbital tissue expansion in the management of congenital anophthalmos.” Br J Plast Surg. 1996 Dec;49(8):529-35.
  • EMedicine http://www.emedicine.com/oph/topic572.htm
  • Mazzoli, Robert A; Raymond, William R IV; Ainbinder, Darryl J; Hansen, Elizabeth A. “Use of self-expanding, hydrophilic osmotic expanders (hydrogel) in the reconstruction of congenital clinical anophthalmos,” Current Opinion in Ophthalmology. 15(5):426-431, October 2004.
  • Yanoff: Ophthalmology, 2nd ed., 2004 Mosby, Inc.
  • Young A, O\'Keefe M. “Bilateral clinical anophthalmos.” Acta Ophthalmol Scand. 1997 Jun;75(3):308-10.
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