Causes
A developmental disorder known as microphthalmia causes one or both eyes to be abnormally small.
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Mutations in genes involved in the development of the eye.
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Microphthalmia may be caused by chromosomal abnormalities like Trisomy 13 or 18.
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Pregnancy-related infections include rubella, toxoplasmosis, and cytomegalovirus.
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Pregnancy-related environmental factors: Exposure to certain chemicals or drugs.
Symptoms
There can be a wide range of severity of symptoms associated with microphthalmia, including:
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At birth, the eye(s) are noticeably smaller.
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Impairment of vision: Ranges from reduced vision to complete blindness.
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Other eye abnormalities such as cataracts, colobomas, and retinal detachment may also be present.
Diagnosis
Microphthalmia is diagnosed by:
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An initial assessment of the size and appearance of the eyes is performed during the physical examination.
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Examinations of the eye and surrounding tissues using ultrasound, CT scans, or MRIs.
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To identify underlying genetic mutations or chromosomal abnormalities.
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An eye specialist evaluates the extent of visual impairment and other associated anomalies with an ophthalmologic evaluation.
Treatment
The treatment of microphthalmia focuses on improving visual potential and addressing associated conditions:
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To promote facial symmetry, prosthetic eyes can be fitted in cases of severe microphthalmia or anophthalmia (absence of the eye).
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To improve vision, glasses, contact lenses, or low vision aids are used.
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Cataracts and colobomas may require surgical intervention.
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Therapies that support the child's development, such as visual stimulation and occupational therapy.
Prevention
Microphthalmia can be prevented by:
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In families with a history of genetic disorders associated with microphthalmia, genetic counseling is available.
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Regular prenatal check-ups and avoiding harmful substances during pregnancy are essential.
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Vaccination: Vaccination against congenital anomalies such as rubella.
Conclusion
An abnormally small eye is a sign of microphthalmia, a congenital disorder with varying degrees of vision impairment. The diagnosis involves a physical examination, imaging studies, genetic testing, and ophthalmologic evaluation. Genetic mutations, chromosomal abnormalities, intrauterine infections, and environmental factors contribute to the condition. Prosthetic eyes, vision aids, surgery, and supportive therapies are used to improve visual function and address associated anomalies. Genetic counseling, proper prenatal care, and vaccinations against infections that can cause congenital eye defects are all preventative measures.
