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Bilateral Clinical Anophthalmos

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

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  1. Bilateral Clinical Anophthalmos Caleb Sawyer, MD Resident Jorge Corona, MD Faculty Advisor

  2. Case Presentation • 4 y/o Hispanic female with bilateral clinical anophthalmos • Profound developmental delay • Otherwise healthy • Fitted with conformers 3 times since birth

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 3D CT Reconstruction

  11. 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

  12. 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.

  13. Patient Education • Treatment will be long and complicated • Multiple surgical treatments throughout a patient’s lifetime • Consider genetic counseling in familial cases

  14. 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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