microphthalmie

Microphthalmia, sometimes written microphthalmie in French-language sources, is a developmental disorder characterized by an abnormally small ocular globe. The axial length is reduced and the eye volume is smaller than normal. It can be isolated or associated with other ocular or systemic anomalies, and may affect one eye (unilateral) or both (bilateral).

Clinical features vary. In unilateral cases the opposite eye is usually normal. Bilateral cases often show small, shallow orbits. Visual potential depends on the retina and anterior segment structures; some individuals retain light perception, while others have little or no vision. Cosmetic concerns are common and prosthetic rehabilitation is frequently pursued.

Causes and risk factors include genetic mutations, chromosomal abnormalities, and environmental influences during pregnancy. Genes such as SOX2 and OTX2 have been implicated; microphthalmia may occur in isolated or syndromic forms. Teratogenic exposures, including intrauterine infections and retinoic acid exposure, have been associated with the condition. Inheritance can be autosomal dominant, autosomal recessive, or X-linked depending on the case.

Diagnosis relies on examination and imaging. Ultrasound, CT, or MRI assess globe size and orbital structures; axial length can be measured in older children. It is important to distinguish microphthalmia from anophthalmia and nanophthalmia for prognosis and management.

Management is individualized. Options include optical correction or prosthetic rehabilitation for cosmetic reasons; in some cases orbital implants or reconstructive procedures are considered. Genetic counseling and multidisciplinary care are recommended to identify associated anomalies and support development. The prognosis varies with severity and the presence of additional anomalies.