4 free views remaining today

coloboma

ICD-10 Codes

Related ICD-10:

Description

A coloboma is a birth defect that affects the eye, causing an area of missing tissue in one or both eyes. This can occur in various parts of the eye, including the iris, retina, and blood vessel layer under the retina.

Types of Coloboma

  • Eyelid coloboma: A piece of the upper or lower eyelid is missing.
  • Lens coloboma: A piece of the lens is missing.
  • Optic nerve coloboma: The optic nerve, which carries visual information from the eye to the brain, is affected.

Causes and Associations

Colobomas can be caused by genetic disorders, such as cat-eye syndrome. In some cases, a family history of coloboma or a specific syndrome may not be present in babies born with a coloboma.

Symptoms and Effects

A coloboma can cause visual field defects, particularly in the upper visual field, and predispose patients to retinal detachment. The affected eye may have an irregular pupil shape due to the missing tissue.

Prevalence and Treatment

Colobomas are present at birth and can affect one or both eyes. While there is no cure for coloboma, treatments such as glasses or contact lenses can help individuals with the condition make the most of their vision.

References:

  • [1] A coloboma can affect one or both eyes. If both eyes are involved, it can affect them the same way or differently.
  • [2] A coloboma is an area of missing tissue in your eye.
  • [3] A coloboma is a condition in which a baby is born with tissue missing from inside or around the eye.
  • [4] Coloboma is an eye abnormality that occurs before birth.
  • [5] May 10, 2024 — Coloboma is derived from the Greek koloboma, meaning mutilated, curtailed, or with defect.
  • [6] A coloboma is a defect in the iris of the eye.
  • [14] Coloboma is an eye condition that people are born with. It happens when part of the tissue that makes up the eye is missing.

Additional Characteristics

  • retinal detachment
  • coloboma
  • Eyelid coloboma
  • Lens coloboma
  • Optic nerve coloboma
  • cat-eye syndrome
  • irregular pupil shape

Signs and Symptoms

Coloboma: Signs and Symptoms

Coloboma is a rare congenital condition characterized by a hole or defect in one or more parts of the eye, such as the iris, retina, choroid, or optic nerve. The symptoms of coloboma can vary depending on the location and severity of the defect.

Common Symptoms:

  • Vision Loss or Blindness: One of the most common symptoms of coloboma is vision loss or blindness in one eye [1].
  • Low Vision: Individuals with coloboma may experience low vision, which can range from mild to severe visual impairment [2].
  • Sensitivity to Light: Some people with coloboma may be sensitive to light due to the abnormal shape of the iris or other parts of the eye [3].
  • Inability to Control Eye Movements (Nystagmus): In some cases, individuals with coloboma may experience nystagmus, which is an involuntary movement of the eyes [4].

Other Possible Symptoms:

  • A keyhole or cat-eye appearance of the pupil due to a defect in the iris [5].
  • Eye movement problems, such as difficulty moving the eye from side to side [6].
  • Poor vision or blindness in one eye, which can be caused by a defect in the retina or other parts of the eye [7].

It's essential to note that the symptoms of colob

Additional Symptoms

  • Eye movement problems
  • Vision Loss or Blindness
  • Low Vision
  • Inability to Control Eye Movements (Nystagmus)
  • Keyhole or cat-eye appearance of the pupil
  • Poor vision or blindness in one eye
  • light sensitivity

Diagnostic Tests

Diagnostic Tests for Coloboma

Coloboma can be diagnosed through various tests, which help identify the extent and location of the condition. Here are some diagnostic tests used to diagnose coloboma:

  • Dilated Funduscopic Examination: This test involves dilating the pupils to allow a thorough examination of the retina and optic nerve (4).
  • Ophthalmologic Evaluation: A comprehensive eye exam by an ophthalmologist can identify other ocular abnormalities often seen in syndromic cases (3).
  • Genetic Testing: Genetic testing is done on a blood sample and may involve looking at the patient's chromosomes, or looking at a specific gene on one of the chromosomes (5). This test helps determine if the coloboma is part of a genetic syndrome.
  • Karyotype Analysis: A karyotype analysis involves examining the number and structure of the patient's chromosomes (6).
  • Chromosomal Microarray Analysis (CMA): CMA is a test that examines the entire genome for any abnormalities (6).
  • Targeted Next-Generation Sequencing (NGS): This test focuses on specific genes or regions of the genome to identify genetic mutations (6).

Additionally, an ophthalmologist may use an ophthalmoscope to examine the inside of the eye and determine where the issue is and the extent of the damage (7).

Additional Diagnostic Tests

  • Genetic Testing
  • Chromosomal Microarray Analysis (CMA)
  • Dilated Funduscopic Examination
  • Ophthalmologic Evaluation
  • Karyotype Analysis
  • Targeted Next-Generation Sequencing (NGS)
  • Ophthalmoscope

Treatment

Based on the provided context, it appears that there are limited treatment options for coloboma, and most of them focus on managing symptoms rather than curing the condition.

  • Corrective lenses: Wearing corrective lenses (glasses or contacts) may be recommended to correct vision problems associated with coloboma [2].
  • Eye patch or eye drops: An eye patch or eye drops may be prescribed to prevent amblyopia (lazy eye) in cases where one eye is more affected than the other [1, 2].
  • Low vision aids: Low vision aids may be recommended for individuals with significant visual impairment due to coloboma [1, 4].

However, it's essential to note that there are no direct treatments available for coloboma itself. Any corrective measures depend on what part of the eye is affected and the severity of the condition.

  • Surgery: Surgery may be performed in some cases to close the hole or repair any related damage [5].
  • Topical antibiotic ointment: Topical antibiotic or combination ointment should be administered to the operated eye(s) for four times a day for 1-2 weeks following surgery [8].

It's also worth noting that treatment options may vary depending on the type and severity of coloboma, as well as individual circumstances.

References:

[1] Nov 15, 2023 — What's the

Recommended Medications

  • Low vision aids
  • Corrective lenses
  • Eye patch or eye drops

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of Coloboma

Coloboma, a condition characterized by an area of missing tissue in the eye, can be diagnosed through various methods and differential diagnoses considered to rule out other conditions with similar symptoms.

  • Optic Nerve Hypoplasia: This is an abnormally small optic nerve head that can be confused with coloboma. However, it is typically associated with other systemic abnormalities.
  • Optic Nerve Coloboma: This condition is characterized by an inferior excavation and is often associated with iris and choroidal colobomas. It usually occurs bilaterally and is frequently linked to defects in the PAX6 gene.
  • Macular Coloboma: A rare condition that affects the macula, causing visual disturbances. Fundoscopy, electroretinogram, electrooculography, fundus fluorescein angiography, and SD-OCT are critical for differential diagnosis of MC-like lesions.

Other Conditions to Consider

In addition to the above-mentioned conditions, other factors should be considered in the differential diagnosis of coloboma:

  • Papillorenal Syndrome: A systemic condition that can be diagnosed through optic disc morphology.
  • Optic Pit: A condition that does not result from deficiencies in fetal closure of the optic fissure.

Key Diagnostic Tools

The following diagnostic tools are essential for accurate differential diagnosis of coloboma:

  • Fundoscopy: A critical tool for examining the retina and optic nerve.
  • Electroretinogram: Measures the electrical activity of the retina.
  • Electrooculography: Records the electrical potential between the cornea and retina.
  • Fundus Fluorescein Angiography: Visualizes the blood vessels in the retina.
  • SD-OCT (Spectral-Domain Optical Coherence Tomography): Provides high-resolution images of the retina.

References

For further information on differential diagnosis of coloboma, refer to:

  1. Ng B, De Silva S, Bindra M. Papillorenal syndrome: a systemic diagnosis not to be missed on fundoscopy. J Neuroophthalmol. 2005;25(3):209-211.
  2. ↑ 12.0 12.1 12.2 Ng B, De Silva S, Bindra M. Papillorenal syndrome: a systemic diagnosis not to be missed on fundoscopy. J Neuroophthalmol. 2005;25(3):209-211.

Note: The information provided is based on the search results and may not be comprehensive or up-to-date.

Additional Information

oboInOwl#hasOBONamespace
disease_ontology
rdf-schema#comment
Xref MGI. OMIM mapping confirmed by DO. [SN].
oboInOwl#id
DOID:12270
core#notation
DOID:12270
oboInOwl#hasDbXref
UMLS_CUI:C0009363
IAO_0000115
An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
rdf-schema#label
coloboma
oboInOwl#hasExactSynonym
congenital ocular coloboma
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#NCIthesaurus
rdf-schema#subClassOf
http://purl.obolibrary.org/obo/DOID_5614
relatedICD
http://example.org/icd10/Q13.0
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_7988
owl#annotatedSource
t398905

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.