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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.