Introduction
Background
True or primary anophthalmos is very rare. Only when there is a complete absence of the ocular tissue within the orbit can a diagnosis of true anophthalmos be made. Extreme microphthalmos is seen more commonly. In this condition, a very small globe is present within the orbital soft tissue, which is not visible on initial examination.
Anophthalmia and microphthalmia may occur secondary to the arrest of development of the eye at various stages of growth of the optic vesicle. It is important to recognize microphthalmia because the development of the orbital region, as well as the lids and the fornices, is dependent on the presence of a normal-sized eye in utero.
Anophthalmia may lead to serious problems in a child due to not only the absence of a seeing eye but also the secondary disfigurement of the orbit, the lids, and the eye socket. Early treatment with various expanders or surgery, when necessary, will help decrease the orbital asymmetry and cosmetic deformities in these children.
Pathophysiology
Anophthalmia occurs when the neuroectoderm of the primary optic vesicle fails to develop properly from the anterior neural plate of the neural tube during embryological development. The more commonly seen microphthalmia can result from a problem in development of the globe at any stage of growth of the optic vesicle.
Proper growth of the orbital region is dependent on the presence of an eye, which stimulates growth of the orbit and proper formation of the lids and the ocular fornices. Commonly, a child born with anophthalmia has a small orbit with narrow palpebral fissure and shrunken fornices.
Frequency
United States
Congenital anophthalmos is a very rare condition that has a reported prevalence rate of 0.18 per 10,000 births.1
Mortality/Morbidity
- Growth and development of the bony orbit is directly dependent on outgrowth of the globe.
- Lack of an eye or a microphthalmic eye causes improper development of the orbit.
- A small bony orbit results in hemifacial hypoplasia and will not allow a prosthesis to be fit. The cosmetic deformity can be quite significant.
Race
Racial predilection for this condition has not been reported.
Sex
Sexual predilection for congenital anophthalmos has not been reported.
Age
Anophthalmos occurs in utero and is a congenital anomaly that is present at birth.
Clinical
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.
Physical
- Orbital findings
- 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
- 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
- Globe is completely absent in primary anophthalmos.
- Extremely small and malformed globe is seen in microphthalmos.
Causes
- Idiopathic/sporadic
- Inherited as dominant, recessive, or sex linked
- Chromosome deletion in band 14q22-23 with associated polydactyly
- Trisomy 13-15
- Genetic deletions involving SOX2, SIX6, and STRA6
- Maternal infections during pregnancy (ie, rubella, toxoplasmosis)
- Often associated with syndromes with craniofacial malformation (ie, Goldenhar syndrome, Hallermann-Streiff syndrome)
More on Anophthalmos |
 Overview: Anophthalmos |
| Differential Diagnoses & Workup: Anophthalmos |
| Treatment & Medication: Anophthalmos |
| Follow-up: Anophthalmos |
| Multimedia: Anophthalmos |
| References |
| Next Page » |
References
Shaw GM, Carmichael SL, Yang W, Harris JA, Finnell RH, Lammer EJ. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A. Aug 15 2005;137(1):36-40. [Medline].
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].
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].
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].
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].
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].
Kennedy RE. The effect of early enucleation on the orbit; in animals and humans. Am J Ophthalmol. Aug 1965;60:277-306. [Medline].
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].
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].
Mustarde JE. The orbital rim. In: Mustarde JC, Jancsous IT, eds. Plastic Surgery in Infancy and Children. Edinburgh: Churchill Livingston; 1988:150-155.
Putterman AM. Ocular socket problems. In: Waltman SR, Keates RH, Hoyt CS, eds. Surgery of the Eye. New York: Churchill Livingston; 1988:749-758.
Roy FH, ed. Ocular Differential Diagnosis. 6th ed. Baltimore, MD: Lippincott, Williams & Wilkins; 1997:263.
Tucker SM, Sapp N, Collin R. Orbital expansion of the congenitally anophthalmic socket. Br J Ophthalmol. Jul 1995;79(7):667-71. [Medline].
Further Reading
Keywords
primary anophthalmos, true anophthalmos, extreme microphthalmos, anophthalmia, microphthalmia, microphthalmic eye, small eye syndrome, small orbit, malformed globe, enucleation, surgical removal of eye, orbital implant, prosthetic eye, artificial eye, conformers
