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General
Anophthalmus is an extremely rare condition which is characterized by the absence of one eye or both eyes, including both the ocular tissue and orbit. Microphthalmia is a birth defect in which one or both eyes did not develop fully, so they are small. Anophthalmus and Microphtalmia can be caused by genetic mutations, chromosomal abnormalities and prenatal environment such as toxoplasma and rubella infections . The most common genetic cause is a mutation in the SOX2 gene.
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Signs & symptoms
Primary anophthalmia is a complete absence of the eye tissue due to failure of the brain to form the eye structure. In secondary anophthalmia, the eye started to develop but stopped for some reason, leaving the baby with residual eye tissue, or a very small eye. Degenerative anophthalmia is when the eye degenerated after the beginning of development. Both microphtalmia and anophtalmia may result in blindness or limited vision.
Diagnosis
Anophthalmia and microphtalmia can be diagnosed prenatally with ultrasound or amniocentesis, in the case of chromosomal abnormality. Postnatal diagnosis includes imaging of the skull and a physical examination by ophthalmologists.
Treatment
Treatment may include prosthetic eye and a cosmetic surgery for the surrounding structures of the eye.
Note
☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.
National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention
☝ All information has been reviewed by certified physicians from Alike
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