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Anophthalmia/Microphthalmia

Last updated 12 Feb 2026

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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 birth defect in which one or both eyes do not form at all. While people who have anophthalmia have no vision in the affected eye, people who have microphthalmia may or may not have significant vision loss. Because both conditions are characterised by impaired eye development, anophthalmia and microphthalmia are often considered to be related disorders (anophthalmia/microphthalmia).

Description

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 birth defect in which one or both eyes do not form at all. While people who have anophthalmia have no vision in the affected eye, people who have microphthalmia may or may not have significant vision loss. Because both conditions are characterised by impaired eye development, anophthalmia and microphthalmia are often considered to be related disorders (anophthalmia/microphthalmia).

Anophthalmia and microphthalmia can occur along with other eye abnormalities. People who have one missing eye (unilateral anophthalmia) can have additional eye abnormalities in the unaffected eye, while people who have microphthalmia can have additional eye abnormalities in one or both eyes (complex microphthalmia). The presence of other eye problems can worsen vision. Additional eye abnormalities can include a missing piece of tissue that may appear as a notch or gap in one of several parts of the eye (coloboma); a clouding of the lens of the eye (cataract); abnormal development of the cells in the retina (retinal dysplasia);  or microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.

Some individuals have anophthalmia or microphthalmia as part of a syndrome that affects multiple parts of the body (syndromic anophthalmia or microphthalmia). As many as 45 percent of people with anophthalmia or microphthalmia have the condition as part of a recognized syndrome, such as CHARGE syndrome, Fraser syndrome type 1 or 2, and oculofaciocardiodental syndrome. When people have anophthalmia or microphthalmia but do not have additional abnormalities of the eye or other body systems, this is known as isolated anophthalmia or microphthalmia.

Inheritance patterns

The source lists the following possible inheritance patterns: X-linked recessive; Autosomal dominant+New variant; Autosomal recessive; X-linked. More than one pattern can apply in different cases.

Related genes

Other names

A/M

Anophthalmia

Anophthalmos

Microphthalmia

Microphthalmos

Related clinical trials

Related patient information and medicines

Eye problems

Patient information leaflet

Eye problems

Whole eye conditions Thyroid eye disease In thyroid eye disease the muscles and fatty tissues. It can involve one or more of several parts of the eye, including the eyelid, cornea, iris, ciliary body, lens, retina, choroid and optic disc. Coloboma is a rare condition and is sometimes associated with abnormally small eyes (microphthalmia). Not all.

Hypermetropia

Patient information leaflet

Hypermetropia

Long sight can occur at any age but it tends to become more noticeable above the age of 40 years. In rare cases, long sight is caused by other conditions such as diabetes, small eye syndrome (microphthalmia), cancers around the eye and problems with the blood vessels in the retina. Many babies and very young children tend to be slightly.

Further reading and references

Article history

The information on this page is written and peer reviewed by qualified clinicians.

Article also available in English, German, Spanish, French, Italian, Portuguese, Hindi, Hebrew, Arabic, and Swedish.

  • 12 Feb 2026 | Latest version
  • 1 Jul 2025 | Originally published

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