Summary about Disease
Microphthalmia is a congenital condition in which one or both eyes are abnormally small. It can range in severity, from only slightly smaller than normal to complete absence of the eyeball (anophthalmia, often considered the most extreme form of microphthalmia). Microphthalmia can occur in isolation or in association with other birth defects or genetic syndromes. Vision may be impaired, depending on the degree of malformation and the presence of other ocular abnormalities.
Symptoms
The primary symptom is an abnormally small eye or eyes. Other associated symptoms, which may vary depending on the cause and severity, can include:
Small cornea
Small or absent iris
Cataracts
Glaucoma
Coloboma (a gap in the structures of the eye)
Nystagmus (involuntary eye movements)
Vision impairment, ranging from mild to complete blindness
Other systemic abnormalities or syndromes if microphthalmia is part of a broader condition.
Causes
Microphthalmia can be caused by a variety of factors:
Genetic mutations: Mutations in specific genes are a common cause. Several genes are known to be associated with microphthalmia.
Chromosomal abnormalities: Conditions like Trisomy 13 (Patau syndrome) can include microphthalmia.
Environmental factors: Exposure to certain substances during pregnancy (e.g., alcohol, certain medications, radiation, infections like rubella, toxoplasmosis, cytomegalovirus, herpes simplex virus, or Zika virus) can increase the risk.
Idiopathic: In some cases, the cause is unknown.
Medicine Used
There is no specific medicine to "cure" microphthalmia, as it is a structural defect. Treatment focuses on managing associated conditions and maximizing vision potential. Potential interventions include:
Prosthetic eye/conformers: To stimulate orbital growth and improve facial symmetry, especially in severe cases.
Surgery: To address cataracts, glaucoma, or other structural abnormalities.
Vision correction: Glasses or contact lenses to improve vision if possible.
Treatment for associated conditions: If microphthalmia is part of a syndrome, management of the other features of that syndrome.
Is Communicable
Microphthalmia is not a communicable disease. It is not contagious and cannot be spread from person to person.
Precautions
While microphthalmia itself is not preventable in all cases, some precautions can reduce the risk:
Prenatal care: Regular prenatal checkups and avoiding harmful substances (alcohol, drugs, certain medications) during pregnancy.
Vaccinations: Vaccinations against rubella and other infections that can cause birth defects.
Genetic counseling: If there is a family history of microphthalmia or other genetic conditions.
Avoiding exposure to radiation during pregnancy.
Preventing Zika Virus infection by avoiding mosquito bites (using insect repellent, wearing long sleeves and pants, and staying in places with air conditioning or window and door screens) if living in or traveling to an area with Zika.
How long does an outbreak last?
Microphthalmia is not an infectious disease and, therefore, does not have outbreaks. It is a congenital condition present at birth.
How is it diagnosed?
Diagnosis is typically made at birth or shortly thereafter by physical examination. The ophthalmologist will measure the size of the eye(s). Additional tests may include:
Ultrasound: To visualize the internal structures of the eye.
CT scan or MRI: To provide more detailed imaging of the eye and surrounding structures.
Genetic testing: To identify specific genetic mutations or chromosomal abnormalities.
Ophthalmological examination: To assess vision and identify other associated eye problems.
Timeline of Symptoms
Microphthalmia is present at birth. Symptoms are evident from the time of birth. Associated vision problems might become more apparent as the child develops.
Important Considerations
Early intervention is crucial: For maximizing vision potential and addressing associated developmental challenges.
Multidisciplinary care: Management often involves a team of specialists, including ophthalmologists, geneticists, pediatricians, and developmental therapists.
Emotional support: Families may benefit from support groups and counseling to cope with the diagnosis and management of microphthalmia.
Cosmetic considerations: Prosthetic eyes can significantly improve appearance and self-esteem.
Regular eye exams Monitor for development of glaucoma, cataracts, or other eye problems.