Coloboma: Difference between revisions
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[[File:Coloboma.jpg|Coloboma|thumb]] '''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. | {{SI}} | ||
{{Infobox medical condition | |||
| name = Coloboma | |||
| image = [[File:Coloboma_of_the_iris.JPG|250px]] | |||
| caption = Coloboma of the iris | |||
| field = [[Ophthalmology]] | |||
| synonyms = | |||
| symptoms = [[Vision impairment]], [[photophobia]], [[strabismus]] | |||
| complications = | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Genetic mutations, [[chromosomal abnormalities]] | |||
| risks = | |||
| diagnosis = [[Ophthalmic examination]], [[genetic testing]] | |||
| differential = [[Aniridia]], [[microphthalmia]], [[retinal detachment]] | |||
| prevention = | |||
| treatment = [[Corrective lenses]], [[surgery]] | |||
| medication = | |||
| prognosis = Varies depending on severity | |||
| frequency = Rare | |||
}} | |||
[[File:Coloboma.jpg|Coloboma|left|thumb]] '''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== | ==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. | 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== | ||
Symptoms of coloboma can range from mild to severe and may include: | Symptoms of coloboma can range from mild to severe and may include: | ||
| Line 10: | Line 29: | ||
* Problems with depth perception | * Problems with depth perception | ||
* Increased sensitivity to light | * Increased sensitivity to light | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of coloboma involves a comprehensive eye examination, which may include: | Diagnosis of coloboma involves a comprehensive eye examination, which may include: | ||
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* Examination of the eye's structure with an ophthalmoscope or slit lamp | * 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 | * 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== | ==Treatment== | ||
There is no cure for coloboma, but treatment options are available to manage symptoms and prevent complications. Treatment may include: | There is no cure for coloboma, but treatment options are available to manage symptoms and prevent complications. Treatment may include: | ||
| Line 23: | Line 40: | ||
* Sunglasses or photochromic lenses to reduce light sensitivity | * 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 | * [[Surgery]] in some cases, such as to repair an eyelid coloboma or to improve the cosmetic appearance of the eye | ||
==Prognosis== | ==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. | 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== | ==See Also== | ||
* [[Eye development]] | * [[Eye development]] | ||
* [[Congenital anomalies of the eye]] | * [[Congenital anomalies of the eye]] | ||
* [[Visual impairment]] | * [[Visual impairment]] | ||
[[Category:Eye]] | [[Category:Eye]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Visual system]] | [[Category:Visual system]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 02:08, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Coloboma | |
|---|---|
| File:Coloboma of the iris.JPG | |
| 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 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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
