Coloboma

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Coloboma
Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	Vision impairment, photophobia, strabismus
Complications
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations, chromosomal abnormalities
Risks
Diagnosis	Ophthalmic examination, genetic testing
Differential diagnosis	Aniridia, microphthalmia, retinal detachment
Prevention
Treatment	Corrective lenses, surgery
Medication
Prognosis	Varies depending on severity
Frequency	Rare
Deaths	N/A

Coloboma

Coloboma refers to a defect in the structure of the eye that is present from birth (congenital). This condition can affect several parts of the eye, including the iris, choroid, eyelid, lens, and optic nerve. Coloboma occurs due to the incomplete closure of the embryonic fissure, a gap in the developing eye, during the fifth to seventh week of pregnancy. The severity and impact of coloboma on vision can vary greatly depending on the size and location of the gap.

Causes

The exact cause of coloboma is not fully understood, but it is believed to involve a combination of genetic and environmental factors. In some cases, coloboma is associated with genetic syndromes such as CHARGE syndrome, Patau syndrome (Trisomy 13), and Cat Eye syndrome. Genetic mutations affecting eye development can also lead to coloboma when inherited from one or both parents.

Symptoms

Symptoms of coloboma can range from mild to severe and may include:

• A keyhole-shaped pupil if the iris is affected
• Vision loss or impairment, depending on the size and location of the coloboma
• Problems with depth perception
• Increased sensitivity to light

Diagnosis

Diagnosis of coloboma involves a comprehensive eye examination, which may include:

• Visual acuity tests to assess the extent of vision impairment
• Examination of the eye's structure with an ophthalmoscope or slit lamp
• Imaging tests such as ultrasound or Magnetic Resonance Imaging (MRI) to evaluate the extent of the coloboma and its impact on the eye's structure

Treatment

There is no cure for coloboma, but treatment options are available to manage symptoms and prevent complications. Treatment may include:

• Prescription glasses or contact lenses to improve vision
• Patching the stronger eye to treat or prevent amblyopia in children
• Sunglasses or photochromic lenses to reduce light sensitivity
• Surgery in some cases, such as to repair an eyelid coloboma or to improve the cosmetic appearance of the eye

Prognosis

The prognosis for individuals with coloboma varies widely and depends on the severity and location of the defect. Some individuals may have minimal vision problems, while others may experience significant vision impairment. Regular eye examinations are important to monitor the condition and manage any complications.

See Also

• Eye development
• Congenital anomalies of the eye
• Visual impairment

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