Anophthalmia

Anophthalmia is a rare congenital condition characterized by the absence of the eyeball within the orbit. In some cases, the term is used for a spectrum that includes extremely small eyes or residual ocular tissue, but the defining feature is the failure to form a normal globe. It can be unilateral or bilateral and may occur with other facial or brain abnormalities.

Causes and associations

Most cases arise during early eye development and can be sporadic or hereditary. Genetic factors are implicated in a substantial portion of bilateral cases, with mutations in genes such as SOX2 and OTX2 identified in affected individuals. Other genetic or chromosomal abnormalities can be involved, and environmental factors (for example, exposure to high-dose retinoids during pregnancy) have been associated with ocular agenesis. Anophthalmia often occurs as part of broader syndromes or in association with forebrain or facial anomalies, particularly when other organ systems are affected.

Diagnosis and management

Diagnosis is established by clinical examination at birth and is supported by imaging studies such as ultrasound, CT, or MRI to assess the orbits and any residual ocular tissue or associated anomalies. Genetic testing is commonly offered in bilateral or syndromic cases. Management is multidisciplinary and focuses on accommodation for cosmetic rehabilitation and orbital growth. After orbit development, prosthetic ocular implants or fitted ocular prostheses are used to improve appearance and symmetry, with concurrent management of eyelid position and facial development. Counseling regarding recurrence risk and associated conditions is recommended.

Prognosis

Vision is absent in anophthalmia. The impact on development depends on associated anomalies and overall health, with unilateral cases potentially having normal cognitive development if CNS involvement is absent.