Anophthalmos Treatment & Management

  • Author: Nick Mamalis, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Apr 17, 2012
 

Medical Care

Medical care in anophthalmos focuses on treating the soft tissue hypoplasia as well as asymmetric bony growth and is as follows[12, 13, 14] :

  • Ocular/orbital[15]
    • A solid conformer may be placed in the orbit to stimulate bony orbital growth and to enlarge the orbital cavity in an attempt to attain normal proportions.
    • Progressively increasing the size of conformers will often help to increase the size of the orbit.
    • Solid conformers require multiple procedures and are generally unable to keep pace with bony growth of the contralateral normal orbit.
    • An ocular prosthesis may be fitted over the conformer to improve the appearance.
    • In patients with unilateral anophthalmos, they and their families should be aware that the target proportions of a reconstructed orbit are not planned to exactly mirror that of a healthy orbit. In all likelihood, a perfectly normal-looking orbit will not be achieved.
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Surgical Care

Surgical care in anophthalmos is as follows[16] :

  • Inflatable expander[17]
    • If conformers are not tolerated or are unsuccessful, an inflatable expander may be placed surgically.
    • The expander works best if placed relatively early in life, especially within the first year.
    • The inflatable silicone expander is placed surgically deep into the orbit and is accessible by a tube placed in the lateral orbital rim.
    • The expander can be gradually filled with liquid (eg, saline) on a weekly or biweekly basis.
    • The advantage of an inflatable expander is that it may allow more rapid and extensive orbital tissue expansion as compared with solid conformers.
    • Integrated orbital tissue expanders have been shown[18] to stimulate orbital bone growth in a feline model.[19]
    • Recent clinical reports have shown promising results in the stimulation of anophthalmic orbital growth.[20, 21]
  • Self-expanding hydrophilic, osmotic expanders[22]
    • A new possible treatment is the use of self-inflating expanders.
    • Hydrophilic expanders are placed in their dry, contracted state. The expanders then expand gradually to their full size via osmotic absorption of surrounding tissue fluid.
    • This method offers the benefit of controllable self-expansion, without the necessity of repeated fittings of solid conformers or surgical placement of external tubing required for inflatable expanders.
    • Long-term biocompatibility studies have not been completed, but early results are promising.
  • Injectable calcium hydroxylapatite: Volume augmentation in the anophthalmic socket with injectable hydroxylapatite (Radiesse) has been reported.[23]
  • Eyelid surgery
    • The increase in the size of a conformer is often limited by shortening of the eyelids in the palpebral fissure, which do not permit passage of a large conformer. The horizontal length of the palpebral fissure may be increased surgically by performing a lateral canthotomy or cantholysis.
    • An additional method to lengthen the eyelids can be accomplished by a combination of skin, mucosal, or cartilage grafts.
  • Orbital surgery
    • If conformers and expanders are unsuccessful, the bony orbit may be expanded surgically. This method is preferred in cases of late referral or insufficient orbital volume.
    • The orbit can be expanded in 3 different directions, as follows: laterally, inferiorly, and superiorly.
    • Surgical expansion of the orbit can be accomplished by dividing the bony orbital rim into 3 parts in a stepwise fashion.
    • Cranial bone grafts may be used to augment deficient orbital contours.
    • Lastly, a bicoronal approach through the scalp may be necessary when the orbital roof has to be elevated.
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Consultations

  • Anophthalmos causes serious psychological problems due to not only the absence of an eye but also the disfigurement of the orbital socket and the eyelids. Psychological counseling or consultation may be warranted for these children.
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Contributor Information and Disclosures
Author

Nick Mamalis, MD  Professor, Director of Ophthalmic Pathology, Department of Ophthalmology, University of Utah School of Medicine; Director of Intermountain Ocular Research Center

Nick Mamalis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, and American Society of Cataract and Refractive Surgery

Disclosure: Medennium Consulting fee Board membership; Alcon Grant/research funds Independent contractor; Allergan Grant/research funds Independent contractor; AMO Grant/research funds Independent contractor; Bausch& Lomb Grant/research funds Independent contractor; Calhoun Grant/research funds Independent contractor; Anew Optics, Inc. Board membership; MBI Grant/research funds Board membership; Optimedica None Board membership

Coauthor(s)

Andrew James Ollerton, MD  Pre-residency Fellow, Ocular Pathology, Moran Eye Center, University of Utah

Andrew James Ollerton, MD is a member of the following medical societies: American Society of Cataract and Refractive Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Ron W Pelton, MD, PhD  Private Practice, Colorado Springs, Colorado

Ron W Pelton, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Society of Ophthalmic Plastic and Reconstructive Surgery, AO Foundation, and Colorado Medical Society

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD  Associate Professor of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

Mark T Duffy, MD, PhD  Consulting Staff, Division of Oculoplastic, Orbito-facial, Lacrimal and Reconstructive Surgery, Green Bay Eye Clinic, BayCare Clinic; Medical Director, Advanced Cosmetic Solutions, A BayCare Clinic

Mark T Duffy, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Ophthalmic Plastic and Reconstructive Surgery, Sigma Xi, and Society for Neuroscience

Disclosure: Allergan - Botox Cosmetic Honoraria Speaking and teaching

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD  Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

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  2. Boyd PA, Haeusler M, Barisic I. EUROCAT Report 9: Surveillance of congenital anomalies in Europe 1980-2008. Birth Defects Res A Clin Mol Teratol. Mar 2011;91 Suppl 1:S1. [Medline].

  3. Shah SP, Taylor AE, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest Ophthalmol Vis Sci. Jan 2011;52(1):558-64. [Medline].

  4. Roy FH, ed. Ocular Differential Diagnosis. 6th ed. Baltimore, MD: Lippincott, Williams & Wilkins; 1997:263.

  5. Kennedy RE. The effect of early enucleation on the orbit; in animals and humans. Am J Ophthalmol. Aug 1965;60:277-306. [Medline].

  6. Putterman AM. Ocular socket problems. In: Waltman SR, Keates RH, Hoyt CS, eds. Surgery of the Eye. New York: Churchill Livingston; 1988:749-758.

  7. Ahmad ME, Dada R, Dada T, Kucheria K. 14q(22) deletion in a familial case of anophthalmia with polydactyly. Am J Med Genet A. Jul 1 2003;120(1):117-22. [Medline].

  8. Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA. Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1. Am J Med Genet A. Feb 15 2003;117A(1):47-56. [Medline].

  9. Bakrania P, Robinson DO, Bunyan DJ, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. Nov 2007;91(11):1471-6. [Medline].

  10. Bardakjian TM, Schneider A. The genetics of anophthalmia and microphthalmia. Curr Opin Ophthalmol. Sep 2011;22(5):309-13. [Medline].

  11. Albernaz VS, Castillo M, Hudgins PA, Mukherji SK. Imaging findings in patients with clinical anophthalmos. AJNR Am J Neuroradiol. Mar 1997;18(3):555-61. [Medline].

  12. Marchac D, Cophignon J, Achard E, Dufourmentel C. Orbital expansion for anophthalmia and micro-orbitism. Plast Reconstr Surg. Apr 1977;59(4):486-91. [Medline].

  13. Mustarde JE. The orbital rim. In: Mustarde JC, Jancsous IT, eds. Plastic Surgery in Infancy and Children. Edinburgh: Churchill Livingston; 1988:150-155.

  14. Tucker SM, Sapp N, Collin R. Orbital expansion of the congenitally anophthalmic socket. Br J Ophthalmol. Jul 1995;79(7):667-71. [Medline].

  15. Krastinova D, Kelly MB, Mihaylova M. Surgical management of the anophthalmic orbit, part 1: congenital. Plast Reconstr Surg. Sep 15 2001;108(4):817-26. [Medline].

  16. Quaranta-Leoni FM. Treatment of the anophthalmic socket. Curr Opin Ophthalmol. Sep 2008;19(5):422-7. [Medline].

  17. Gundlach KK, Guthoff RF, Hingst VH, Schittkowski MP, Bier UC. Expansion of the socket and orbit for congenital clinical anophthalmia. Plast Reconstr Surg. Oct 2005;116(5):1214-22. [Medline].

  18. Cepela MA, Nunery WR, Martin RT. Stimulation of orbital growth by the use of expandable implants in the anophthalmic cat orbit. Ophthal Plast Reconstr Surg. 1992;8(3):157-67; discussion 168-9. [Medline].

  19. Tse DT, Pinchuk L, Davis S, Falcone SF, Lee W, Acosta AC, et al. Evaluation of an integrated orbital tissue expander in an anophthalmic feline model. Am J Ophthalmol. Feb 2007;143(2):317-327. [Medline].

  20. Tse DT, Abdulhafez M, Orozco MA, Tse JD, Azab AO, Pinchuk L. Evaluation of an integrated orbital tissue expander in congenital anophthalmos: report of preliminary clinical experience. Am J Ophthalmol. Mar 2011;151(3):470-82.e1. [Medline].

  21. Quaranta-Leoni FM. Congenital anophthalmia: current concepts in management. Curr Opin Ophthalmol. Sep 2011;22(5):380-4. [Medline].

  22. Mazzoli RA, Raymond WR 4th, Ainbinder DJ, Hansen EA. Use of self-expanding, hydrophilic osmotic expanders (hydrogel) in the reconstruction of congenital clinical anophthalmos. Curr Opin Ophthalmol. Oct 2004;15(5):426-31. [Medline].

  23. Kotlus BS, Dryden RM. Correction of anophthalmic enophthalmos with injectable calcium hydroxylapatite (Radiesse). Ophthal Plast Reconstr Surg. Jul-Aug 2007;23(4):313-4. [Medline].

 
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Anophthalmic socket (left eye).
Close-up view of anophthalmic socket (left eye).
 
 
 
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