Anophthalmos, clinical

A congenital condition characterized by the absence of one or both eyes.

Anophthalmos
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Synonyms	Anophthalmia
Pronounce	N/A
Specialty	N/A
Symptoms	Absence of one or both eyes
Complications	Facial asymmetry, psychosocial issues
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations, environmental factors
Risks	N/A
Diagnosis	Clinical examination, imaging
Differential diagnosis	N/A
Prevention	N/A
Treatment	Prosthetic eye, surgical intervention
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Anophthalmos, also known as anophthalmia, is a rare congenital condition characterized by the complete absence of one or both eyes. This condition can occur due to genetic mutations or environmental factors during fetal development. Anophthalmos is distinct from microphthalmia, where the eye is present but abnormally small.

Etiology

Anophthalmos can be classified into three types based on its etiology:

• Primary anophthalmos: This occurs when the optic vesicle fails to form during embryonic development, leading to the complete absence of ocular tissue.
• Secondary anophthalmos: This results from the degeneration of the optic vesicle after it has formed, often due to genetic or environmental insults.
• Degenerative anophthalmos: This is associated with the degeneration of previously formed ocular tissue, possibly due to trauma or infection during fetal development.

Genetic factors play a significant role in the development of anophthalmos. Mutations in genes such as SOX2, OTX2, and RAX have been implicated in the condition. Environmental factors, including exposure to teratogens during pregnancy, can also contribute to the development of anophthalmos.

Clinical Presentation

Patients with anophthalmos present with the absence of one or both eyes at birth. The condition can lead to significant facial asymmetry and may affect the development of the orbital cavity. In unilateral cases, the affected side may appear sunken compared to the normal side.

Diagnosis

Diagnosis of anophthalmos is primarily clinical, based on the physical examination of the newborn. Imaging studies, such as ultrasound or MRI, can be used to confirm the absence of ocular tissue and assess the development of the orbital structures.

Management

Management of anophthalmos involves a multidisciplinary approach, including ophthalmologists, plastic surgeons, and prosthetists. The primary goals are to promote normal facial development and provide cosmetic rehabilitation.

• Prosthetic eye: Fitting a prosthetic eye can help maintain the shape of the orbital cavity and improve cosmetic appearance.
• Surgical intervention: Surgical procedures may be necessary to expand the orbital cavity and support the placement of a prosthetic eye.

Prognosis

The prognosis for individuals with anophthalmos depends on the presence of associated anomalies and the success of cosmetic rehabilitation. Early intervention can improve facial symmetry and psychosocial outcomes.

Also see

• Microphthalmia
• Congenital eye anomalies
• Ocular prosthesis