anophtalmie

Anophtalmie, also called anophthalmia, is a rare congenital absence of one or both eyes due to failure of ocular tissue formation early in development. It is distinct from microphthalmia, where the eye is present but abnormally small; however, some cases lie on a spectrum between the two.

Etiology and pathophysiology: Anophthalmia arises during the first weeks of gestation when the optic vesicle fails to form or the optic stalk regresses. It may be isolated or part of a broader syndrome. Genetic factors are well established, with mutations in SOX2, OTX2, RAX, FOXE3 and other genes reported. Environmental exposures to teratogens and other maternal conditions can also contribute. Bilateral cases often accompany additional craniofacial or central nervous system abnormalities, while unilateral cases may be isolated.

Clinical features and diagnosis: The hallmark is the absence of the globe on examination, with variable development of eyelids and orbital tissues. Prenatal imaging, such as fetal ultrasound or fetal MRI, can diagnose or suggest the condition. After birth, magnetic resonance imaging or computed tomography helps evaluate residual orbital contents and screen for associated anomalies.

Management and prognosis: Care is multidisciplinary, involving ophthalmology, genetics, pediatrics, and often craniofacial or plastic surgery. In unilateral anophthalmia, a cosmetic prosthetic eye is typically used and early orbital expansion may support facial growth. Bilateral anophthalmia poses greater functional and cosmetic challenges, focusing on rehabilitation and psychosocial support. Vision is absent in affected eyes, and overall prognosis depends largely on associated anomalies.

Epidemiology: Anophthalmia is rare, with estimates around 1 in 100,000 to 200,000 births, varying by population. Prevention centers on minimizing teratogenic risks and optimizing maternal health.