- Author: Nick Mamalis, MD; Chief Editor: Hampton Roy, Sr, MD more...
Anophthalmia can be challenging to treat. Patients with anophthalmia often require a team of specialists for proper care. Considerations include identifying associated abnormalities (eg, microcephalia) that may present additional risks to the patient. Aesthetics and cosmesis are important to the self-esteem of the patient. Oculofacial surgery may be costly and may be beyond the reach of many families. Long-term follow-up of the patient is necessary for maximizing his or her function and self-esteem.
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.
See the clinical images below:
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.
The most common genetic disturbance associated with anophthalmia and microphthalmia is de novo loss of function mutations in the SOX2 gene. In consanguineous families, the gene ALDH1A3 may also play an important role.
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.
Congenital anophthalmos is a very rare condition that has a reported prevalence rate of 0.18 per 10,000 births.
European rates are similar to those seen in the United States and have been reported as 0.19 case per 10,000 births.
Australian rates are reported as 0.06-0.42 case per 10,000 births and 0.2-1.7 cases per 10,000 births for anophthalmia and microphthalmia, respectively.
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.
Classically, racial predilection for anophthalmos has not been reported; however, recent studies have shown an elevated prevalence in some ethnic groups. These groups include Pakistani and Scottish children. Genetic, environmental, and possible classification issues may explain these high rates of disease and need to be explored further.
Sexual predilection for congenital anophthalmos has not been reported.
Anophthalmos occurs in utero and is a congenital anomaly that is present at birth.
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