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Anophthalmia/Microphthalmia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Anophthalmia/Microphthalmia

Anophthalmia and microphthalmia are related birth defects characterized by the incomplete development or absence of one or both eyes.

Overview

Anophthalmia and microphthalmia are disorders that affect eye development before birth. Microphthalmia is a birth defect in which one or both eyes do not develop fully and are abnormally small. Anophthalmia is a more severe defect in which one or both eyes do not form at all. Because both conditions involve impaired eye development, they are often considered related disorders.

Symptoms

While people with anophthalmia have no vision in the affected eye, those with microphthalmia may or may not have significant vision loss. Additional eye abnormalities may include:

  • Coloboma: A missing piece of tissue appearing as a notch or gap in the eye.
  • Cataracts: A clouding of the lens of the eye.
  • Retinal dysplasia: Abnormal development of cells in the retina.
  • Microcornea: A small and abnormally curved cornea.

Some individuals have these conditions as part of a syndrome affecting multiple body parts (syndromic anophthalmia or microphthalmia), while others have isolated cases without additional abnormalities.

Causes & Risk Factors

These conditions are caused by variants in genes involved in early eye development. Researchers believe variants in as many as 90 different genes may be responsible. Variants in the SOX2 and OTX2 genes are believed to cause more than half of all cases of bilateral anophthalmia or bilateral and severe microphthalmia. Occasionally, chromosomal changes or environmental factors—such as vitamin shortages, infections like rubella, or exposure to teratogens—can cause these conditions.

Inheritance

Inheritance patterns vary:

  • Autosomal dominant: One copy of an altered gene is sufficient to cause the disorder. Many cases result from new (de novo) variants.
  • Autosomal recessive: Both copies of the gene in each cell must have a variant.
  • X-linked: The altered gene is located on the X chromosome. Males are typically more affected than females.

Cases caused by environmental factors are not inherited.

Frequently Asked Questions

Management focuses on preserving the potential for vision in microphthalmia cases through treatments for cataracts or retinal issues, while anophthalmia requires prosthetic care. In infants, a conformer (a soft, clear plastic shell) is often placed in the eye socket to stimulate growth of the orbit and facial bones. As the child grows, custom-fitted prosthetic eyes are fitted to maintain symmetry and support psychosocial development. Early intervention with occupational therapy and low-vision aids is also critical to help the child develop independence and coping skills.
nophthalmia is the complete absence of the eye, meaning there is no vision in the affected eye. Microphthalmia is the underdevelopment of the eye, resulting in an abnormally small eye. While microphthalmia always involves some degree of vision loss, the severity varies; some individuals may have light perception or limited useful vision, whereas others have no functional sight. Microphthalmia is also frequently associated with other structural defects like colobomas (gaps in eye tissue) or cataracts, which are not present in anophthalmia.
Yes, these conditions can often be detected during routine prenatal ultrasounds, typically in the second trimester. If a small or absent eye is observed, the healthcare provider will recommend detailed fetal echocardiography and genetic counseling. Diagnostic confirmation is achieved through invasive testing such as chorionic villus sampling (CVS) or amniocentesis to analyze fetal DNA for known genetic variants like SOX2 or OTX2. Early detection allows parents to prepare for postnatal care and understand the potential for associated syndromic features.
The inheritance pattern depends on the specific genetic cause. Many cases are autosomal dominant, meaning one copy of the altered gene is sufficient, but a significant portion are de novo (new) mutations, which means the risk of recurrence for future siblings is low. However, if a parent carries the gene, the risk can be 50%. Because over 90 genes are involved, comprehensive genetic testing of the affected child and parents is crucial to determine the exact inheritance pattern and provide accurate recurrence risk estimates for the family.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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