Coloboma

What is it?

A condition from birth where one has tissues missing from their eye and can makes one eye appear different, it does not always affect one vision.

This condition can cause a lazy eye.

Coloboma can affect different parts of the eye:

Iris:

The iris is a round, disk-shaped muscle with a hole in the middle where the pupil is located, here it appears like a keyhole or cat-eye appearance of the pupil.
Coloboma can affect the sensitivity of light and thus cause blurred vision

Retina:

Specialized tissue that lines the back of the eye, the retina senses light and creates electrical impulses which are sent to the brain via the optic nerve.
Coloboma can affect the sensitivity of light and thus cause blurred vision

Microphthalmia (small eye)

Often linked with very large colobomas of the retina.

Choroid:

The blood vessel layer of the eye, located between the retina and the sclera (the white outer coat that surrounds the iris)

Optic nerve:

A bundle of over a million nerve fibres that carry visual messages from the retina to the brain.
Coloboma of the optic nerve often causes blurry vision and blind spots.

verywellhealth

Cause

Development of the eye in in the womb specifically, during the second month of fetal development.
- The defect is a result of the optic fissure failing to close properly during fetal development.
Genetic defects i.e.
- Chromosome 13, Partial Monosomy 13q
- Chromosome 3, Trisomy 3q2
- Chromosome 5, Trisomy 5p
- Chromosome 6 Ring
- Oculo-auriculo-vertebral spectrum [abnormalities tend to involve the cheekbones, jaw, mouth, ears, eyes, and/or bones of the spinal column (vertebrae)]
- Frontofacionasal dysplasia

Syndromes

Bosma arhinia microphthalmia syndrome
Cat eye syndrome
Catel-Manzke syndrome (unusual fingers and toes)
CHARGE syndrome
Chromosome 11, Partial monosomy 11q syndrome
Cohen syndrome (rare)
Fetal alcohol syndrome – (when a pregnant women drinks alcohol during pregnancy causing growth retardation, facial abnormalities, and central nervous system dysfunction)
Epidermal nevus syndromes
Goltz syndrome
Joubert syndrome
Klippel-Feil syndrome
Lenz microphthalmia syndrome
Meckel-Gruber syndrome
Miller syndrome
Nevus sebaceus syndrome
Oculocerebrocutaneous syndrome (with brown skin tags around eyes)
PHACE syndrome
Trisomy 13 Syndrome
Walker-Warburg syndrome

Source: healthleo.com

Complications /Information to beware of/General tips:

This condition can be associated with:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist/Optician) for further advice

Detailed Information

Please copy and paste any key words from the title: Coloboma in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

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