CONDITION REFERENCE
Anophthalmia/Microphthalmia
Information from MedlinePlus Genetics about this condition and how it can be inherited.
About this condition
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 characterized 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
- X-linked recessive
- Autosomal dominant, or a new variant
- Autosomal recessive
- X-linked
A condition can have several forms with different inheritance patterns. Each pattern may apply to a different gene or form of the condition.
Related genes
MedlinePlus lists these genes for this condition. Open a gene page to read any available ClinGen reviews and ClinVar records.
YOUR DNA FILE
What can your DNA file tell you?
Your DNA file only includes the positions your test checked and reported. Consumer DNA kits usually test selected positions. Sequencing files can also leave out positions that were not reported or where the test could not give a result.
A variant missing from your file does not mean you tested negative for it. A ClinVar classification applies to a particular variant and the condition or finding it was reported for. It does not apply to everyone with that gene. An uncertain finding cannot establish a diagnosis.
BioDecode reads supported DNA files on your computer. It cannot fill gaps in your test, diagnose a condition or replace clinical testing.
Sources and dates
The source information on this page last changed on 2026-09-18.
MedlinePlus Source details
Source release: Fri, 18 Sep 2026 05:17:13 GMT
Source publication: 2026-02-12
Source review: 2025-07
SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a
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