Coloboma: Types, Causes & Associated Conditions

Coloboma: Types, Causes & Associated Conditions

Coloboma is a rare congenital eye anomaly that affects the structure of the eye. This condition is

characterized by a hole or gap in one of the structures that make up the eye, including the iris, retina,

choroid, or optic disc. The term coloboma is derived from the Greek word “koloboma,” which means

“mutilation.” In this essay, we will discuss the various types of coloboma, its causes and risk factors, as

well as the associated conditions that may be present. Although coloboma is not a common occurrence,

it can significantly impact an individual’s vision and overall quality of life. Therefore, it is essential to

understand the basics of this condition, its risk factors, and how it can be managed.

A. Explanation of Coloboma

Coloboma is an eye abnormality that occurs when the eye does not form properly during fetal development.

It can affect various structures of the eye, including the iris, retina, choroid, and optic nerve. Some

of the common types of coloboma include iris coloboma, which causes a gap or missing piece in the iris;

retinal coloboma, which affects the retina and can lead to vision loss; and optic nerve coloboma, which

causes a gap or pit in the optic nerve that can result in vision problems. The causes of coloboma are not

fully understood but are believed to be due to genetics or environmental factors. Coloboma can also be

associated with other conditions such as CHARGE syndrome and coloboma-heart defect. Early detection

and treatment of coloboma can prevent severe vision impairment.

One of the most common causes of coloboma is genetic mutations. These mutations affect the development

and growth of various eye structures, including the iris, retina, and optic nerve. In some cases,

coloboma can also be caused by exposure to teratogenic agents during pregnancy. These agents can

include viral infections, drugs, or alcohol. Additionally, coloboma may also be associated with other

conditions and syndromes, such as CHARGE syndrome, Hirschsprung disease, and Renal-Coloboma

Syndrome. As the exact cause of coloboma can vary from person to person, it is important to consult with

a medical professional for proper diagnosis and management of this condition.

II. Types of Coloboma

Another type of coloboma is the uveal coloboma, which affects the uvea, the middle layer of the eye. Uveal

colobomas can be present at birth, or they can develop later in life due to trauma, disease, or other causes.

This type of coloboma can affect the iris, ciliary body, and choroid, and can cause visual disturbances such

as blurred or distorted vision or sensitivity to light. People with uveal colobomas may be at higher risk

for other eye conditions such as glaucoma or retinal detachment. Treatment for uveal colobomas often

involves monitoring for possible complications and may involve surgery or other interventions to address

vision problems.

A. Eye Coloboma

Eye coloboma is a rare congenital condition that affects the development of the eye. It is caused by

a malformation during the early stages of eye development, resulting in a gap in any part of the eye,

including the iris, retina, choroid, or optic nerve. Eye coloboma can vary in size and shape and can affect

one or both eyes. As the condition affects the eye's structure and function, it can result in vision impairment

ranging from mild to severe. People with eye coloboma may also exhibit other associated conditions,

such as nystagmus, cataracts, glaucoma, and microphthalmia. Eye coloboma is typically diagnosed during

infancy or childhood, and treatment depends on the severity of the condition.

1. Iris Coloboma

One specific type of coloboma is the iris coloboma, which occurs when there is a gap or notch in the

iris. This can cause the pupil to be an irregular shape or to appear larger than usual. Iris colobomas are

typically present at birth and can be inherited genetically. These colobomas can also indicate the presence

of other genetic conditions, such as Waardenburg syndrome or CHARGE syndrome. Individuals with iris

coloboma may experience vision problems, including sensitivity to light or blurred vision, and may need

corrective eyewear or surgery to improve their vision. Fortunately, with proper diagnosis and treatment,

individuals with iris coloboma can maintain good eye health and vision.

2. Choroidal Coloboma

Choroidal coloboma is a rare type of coloboma that affects the choroid layer of the eye. The choroid is

responsible for supplying nutrients and oxygen to the retina, so any defects or abnormalities in this layer

can have severe consequences on vision. Choroidal coloboma typically presents with mild to moderate

vision impairment, and patients may experience blurred or distorted vision. There is no known cure for

choroidal coloboma, but management typically involves regular eye exams and visual aids such as glasses

or contact lenses to improve vision. Additionally, genetic counseling may be recommended for affected

individuals and their family members to identify any underlying genetic causes of the condition and to

assess the risk of inheritance.

3. Optic Nerve Coloboma

Optic Nerve Coloboma is a rare and congenital condition in which a portion of the optic nerve fails

to develop properly. This results in a gap or hole in the optic disc, which is the entry point for all

visual information into the brain. People with Optic Nerve Coloboma often experience vision loss or

abnormalities, such as blurred vision or blind spots, particularly in the peripheral areas of their visual

field. The condition may also affect eye movements and cause nystagmus, which is an involuntary

rhythmic movement of the eyes. Diagnosis typically involves a comprehensive ophthalmic examination

and imaging studies, such as a CT scan or MRI. Treatment depends on the severity of the condition and

the symptoms present, and may include visual aids, low vision services, or surgery.

B. Skin Coloboma

Skin coloboma is a rare condition that occurs when a portion of an individual's skin fails to form properly

in utero, leading to a missing patch of skin. This can present itself as a small, circular hole in the skin or a

larger area where there is no skin present at all. The condition can occur anywhere on the body and is often

a cosmetic concern for affected individuals. Skin coloboma is typically treated through surgery to graft

skin onto the affected area, but scarring and pigmentation issues may persist. It is often associated with

other conditions such as skeletal abnormalities, syndromes, and eye coloboma. Due to its rarity, further

research is necessary to fully understand the causes and implications of skin coloboma.

1. Lip and Palate Coloboma

Lip and palate coloboma is a rare type of coloboma that affects the lip and/or palate. It is caused by a failure

of the tissue to fuse together during embryonic development, leading to a gap or split in the lip and/or

palate. The severity of the condition can vary, ranging from a small notch in the lip to a complete cleft

of the lip and palate. Children with lip and palate coloboma may experience feeding difficulties, speech

problems, and dental issues, which can require surgical intervention. Treatments may include surgeries

to repair the cleft and speech therapy to improve communication skills. It is important for healthcare

professionals to provide support and specialized care to patients and families affected by lip and palate

coloboma.

2. Genital Coloboma

Genital coloboma is a relatively rare congenital abnormalities caused by an incomplete closure of the

urorectal septum during embryonic development. It presents as a unique defect in the anterior wall

of the rectum and/or in the posterior urethra, which can vary in size and shape. Patients with genital

coloboma may experience a range of associated conditions, including lower urinary tract dysfunction,

vesicoureteral reflux, hypospadias, hernias, or other defects in the gastrointestinal, cardiovascular, or

central nervous systems. Diagnosis of genital coloboma typically requires a thorough urologic evaluation

with appropriate radiologic and endoscopic imaging. Many patients with genital coloboma may require

surgical intervention to ensure proper reproductive and urinary function.

One of the associated conditions that may accompany coloboma is microphthalmia. This refers to a

congenital disorder in which one or both eyes fail to grow to their expected size during development.

Microphthalmia may be present on its own or occur in combination with other ocular abnormalities such

as coloboma. The condition can result in significant vision impairment and may require treatment such

as corrective lenses or surgery. Microphthalmia can occur due to genetic mutations, exposure to certain

chemicals or infections during pregnancy, or as a result of other medical conditions. In cases where it

presents alongside coloboma, careful monitoring and management may be necessary to help prevent

further vision loss.

III. Causes of Coloboma

One of the most common causes of coloboma is a genetic mutation that occurs during fetal development.

In particular, mutations in the PAX2 gene have been linked to a higher risk of developing coloboma.

Additionally, environmental factors such as maternal infections or alcohol consumption during pregnancy

have also been associated with an increased risk of coloboma. Other causes of coloboma may include

problems with retinal development or damage to the eye during early childhood. Understanding the

various causes of coloboma is critical for developing effective treatment and management strategies for

individuals affected by this condition. Additionally, continued research into the underlying causes of

coloboma may provide important insights into the broader field of ocular development and function.

A. Genetic Causes

Genetic causes play a significant role in the development of coloboma. There are several inherited genetic

syndromes associated with this condition, including CHARGE syndrome, Goldenhar syndrome, and

Patau syndrome. These syndromes are caused by mutations in specific genes that affect the development

of different parts of the body, including the eyes. Researchers have identified several genes responsible

for normal eye development. Mutations in these genes can disrupt the formation and positioning of the

structures in the eye, leading to coloboma. Genetic testing can help doctors identify the underlying cause

of coloboma in individuals and their families, allowing for better management and genetic counseling.

1. Chromosomal abnormalities

Chromosomal abnormalities are mutations that affect the structure or number of chromosomes in an

individual. These changes can be caused by a variety of factors, including genetic inheritance, exposure

to environmental toxins, or errors during cell division. Chromosomal abnormalities can have various

effects on an individual, ranging from mild to severe. Some common chromosomal abnormalities include

Down syndrome, Turner syndrome, and Klinefelter syndrome. These disorders can result in physical,

cognitive, and behavioral changes that can affect an individual's overall health and well-being. While

chromosomal abnormalities cannot be cured, they can often be managed with proper medical care

and support. Early diagnosis and treatment are critical in improving outcomes for individuals with

chromosomal abnormalities.

2. Single gene mutations

Single gene mutations are responsible for a number of genetic disorders, including coloboma. The genetic

mutations that cause coloboma can impact the development of the eye and surrounding tissues, leading to

incomplete formation of structures such as the iris, retina, and optic nerve. While some of these mutations

are sporadic, others may be inherited in an autosomal dominant or recessive manner. Genetic testing can

be used to identify the specific gene mutations that lead to coloboma. Understanding these mutations can

not only aid in diagnosis, but may also be useful in developing targeted treatments in the future.

B. Non-Genetic Causes

Aside from genetic factors, there are several non-genetic causes of coloboma. These include intrauterine

infections, exposure to toxic substances, and trauma during pregnancy. Maternal illnesses such as

rubella, cytomegalovirus, or toxoplasmosis can cause developmental abnormalities in the fetus, including

coloboma. Exposure to certain medications, such as thalidomide or isotretinoin, during pregnancy can

also lead to coloboma. In addition, physical trauma to the developing fetus can result in coloboma. It is

important for pregnant women to be aware of these potential causes and to take necessary precautions to

minimize any risks. Early diagnosis and treatment of coloboma can significantly improve the prognosis

and quality of life for affected individuals.

1. Environmental factors

Environmental factors are also believed to play a role in the development of coloboma. Exposure to certain

toxins and chemicals during fetal development has been shown to increase the risk of this condition.

Additionally, maternal illnesses and infections during pregnancy may increase the likelihood of coloboma.

Studies have also found a higher prevalence of coloboma in certain geographic locations, suggesting

that environmental factors such as high altitude or ultraviolet radiation exposure may also contribute to

its development. These environmental factors can disrupt the proper formation of the eye during fetal

development, leading to the visual abnormalities seen in coloboma.

2. Teratogens

Teratogens are substances or agents that disrupt normal embryonic development and lead to congenital

defects. The effects of teratogens on the developing fetus depend on the exposure timing, the dosage,

and the duration of the exposure. There are different categories of teratogens, including chemicals,

medications, infections, and radiation. The effects of teratogens can range from mild to severe, and may

affect different organs and systems in the body. Some teratogens can cause eye abnormalities, such as

coloboma, by interfering with the formation of the optic cup during embryonic development. Therefore,

preventing teratogenic exposure is critical during pregnancy to reduce the risk of congenital defects and

associated conditions.

Disparities in access to healthcare have been a longstanding issue in the United States, with significant

consequences for patients' health outcomes. Minority populations, individuals living in rural areas, and

those with low incomes are particularly vulnerable to inadequate healthcare access. Several factors contribute

to these disparities, including a lack of insurance coverage, limited access to medical facilities, and

language barriers. Healthcare professionals, policymakers, and other stakeholders have a responsibility

to address healthcare access inequalities and implement solutions to improve healthcare outcomes for

all Americans. This will require a coordinated effort to increase access to insurance coverage, expand

healthcare infrastructure, and provide culturally sensitive care to diverse patient populations.

IV. Associated Conditions with Coloboma

Coloboma is a developmental defect that affects the eye, and it can occur on its own or in association

with other conditions such as CHARGE syndrome, renal coloboma syndrome, or Pierre Robin syndrome.

CHARGE syndrome is a rare chromosomal disorder that affects multiple organs including the eyes, heart,

ears, and nervous system. Individuals with CHARGE syndrome often have a coloboma of the iris and

retina, in addition to hearing loss and facial abnormalities. Renal coloboma syndrome is a genetic disorder

characterized by abnormalities of the kidneys and urinary tract, as well as eye defects such as coloboma.

Finally, Pierre Robin syndrome is a rare disorder that causes a cleft palate, a small lower jaw, and breathing

difficulties. Coloboma can occur in individuals with Pierre Robin syndrome and may be associated with

other eye defects such as microphthalmos or anophthalmos.

A. CHARGE Syndrome

A.CHARGE syndrome is a rare genetic disorder that affects multiple body systems. It results from the

mutation of a specific gene and is characterized by a set of abnormalities, including coloboma. Individuals

with CHARGE syndrome may have craniofacial abnormalities, such as ear and eye anomalies, cleft

lip and palate, and small jaw. They may also have problems with their heart, lungs, digestive system,

and immune system. Sensory impairments, such as hearing loss and balance issues, are common as

well. Developmental delays and intellectual disabilities are also associated with CHARGE syndrome.

Management of the condition involves interdisciplinary care and addressing each individual’s unique

needs.

B. Kabuki Syndrome

is a rare genetic disorder that affects multiple systems of the body. Kabuki syndrome is caused by

mutations in the KMT2D and KDM6A genes that are responsible for controlling the activity of other

genes during embryonic development. The syndrome is characterized by distinctive facial features,

developmental delays and intellectual disability, short stature, skeletal abnormalities, and abnormalities

in organ systems such as the heart, kidneys, and immune system. The diagnosis of Kabuki syndrome can

be difficult due to the variability in symptoms and the fact that many of the symptoms are not unique to

this syndrome. Treatment is mainly supportive and focuses on managing the various symptoms associated

with the disorder.

C. Microphthalmia

Microphthalmia is a congenital eye abnormality characterized by an abnormally small eyeball. The

condition can occur as an isolated abnormality or as part of a syndrome. Microphthalmia can present

with a range of symptoms, depending on its severity, including vision loss, strabismus, nystagmus, and

other eye abnormalities. This condition is caused by genetic mutations or changes in the developmental

process during embryogenesis. Environmental factors such as maternal infections during pregnancy or

exposure to toxic substances may also contribute to the development of microphthalmia. Management of

microphthalmia typically involves treating associated conditions or providing visual aids such as glasses

or contact lenses. In severe cases, surgery may be necessary to correct the abnormality.

D. Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital, and Ear Anomalies

(CHARGE)

CHARGE syndrome is a rare genetic disorder characterized by a combination of several birth defects.

The acronym CHARGE stands for the various anomalies that are linked with this syndrome, including

D. coloboma, heart anomaly, choanal atresia, retardation, genital, and ear anomalies. D. Coloboma is a

type of eye abnormality, where there is a missing portion of the eye tissue, leading to vision problems.

Cardiovascular anomalies are often observed in patients with CHARGE syndrome, and they can range

from minor heart defects to severe heart abnormalities. Choanal atresia is a closure or blockage of the

nasal passage, making it difficult for the affected individual to breathe. In addition, CHARGE syndrome

may also cause hearing loss, genital malformations, cognitive disabilities, and behavioral problems. The

complexity of the syndrome and its multiple associated anomalies make proper management and early

diagnosis imperative for patients with CHARGE syndrome.

In addition to visual impairments, individuals with coloboma may also experience non-ocular co-occurring

conditions such as hearing loss, heart defects, and developmental delays. These associations can vary

depending on the location and severity of the coloboma. For example, individuals with coloboma of the

iris may have a higher risk of hearing loss, while those with coloboma of the optic nerve may be more

likely to have brain or heart abnormalities. Understanding these potential associations is essential for

providing comprehensive care to individuals with coloboma and managing any associated health issues

that may arise. Genetic counseling may also be recommended for affected individuals and their family

members to determine the underlying cause of the coloboma.

V. Diagnosis and Treatment of Coloboma

The diagnosis of coloboma is usually made by an ophthalmologist who examines the eyes and performs

various tests to confirm the condition. These tests may include visual acuity tests, electroretinography, and

imaging tests such as ultrasound or computed tomography (CT) scans. Treatment options for coloboma

vary depending on the extent and severity of the condition. In cases where the coloboma is small and

does not affect vision, no treatment may be necessary. However, in cases where the coloboma is large

or involves critical structures such as the optic nerve or macula, surgery or other interventions may be

necessary to restore or improve vision. In some cases, individuals with coloboma may require ongoing

monitoring and treatment throughout their lives to ensure that any new symptoms or complications are

addressed promptly.

A. Diagnosis

Diagnosis of coloboma involves a comprehensive eye exam, medical history review, and imaging tests.

During the eye exam, an ophthalmologist or optometrist will examine the retina, optic nerve, and other

parts of the eye for signs of coloboma. Imaging tests such as ultrasound, MRI, or CT scans may also be

used to identify the extent and location of coloboma. Additionally, genetic testing may be recommended

to determine if there is an underlying genetic condition associated with coloboma. It is essential to identify

the type, location, and size of coloboma to determine the appropriate treatment and management plan for

the patient. Early diagnosis and timely treatment can significantly improve a patient's visual outcomes

and prevent potential complications.

1. Physical examination

A physical examination is necessary for the diagnosis of coloboma. The doctor will examine the eye

and surrounding areas to identify any abnormalities. The doctor will also check for other associated

conditions such as microphthalmia and optic nerve abnormalities. The physical examination involves

using instruments to look inside the eye and measure its size. The doctor may also perform a visual

acuity test to determine the extent of the patient's vision loss. A thorough physical examination is crucial

to properly diagnose and manage coloboma and any associated conditions. It allows for an accurate

assessment of the extent of the defect and helps the doctor determine the best treatment plan for the

patient.

2. Imaging tests

Imaging tests are an important diagnostic tool used to identify and confirm coloboma. CT scans, MRI

scans, and ultrasound imaging are all commonly used to visualize the affected area and surrounding

tissues. These imaging tests help doctors to not only confirm the presence of coloboma but also to

determine the extent and severity of the malformation. Additionally, they can be used to rule out other

associated conditions and identify any other abnormalities that may be present. Imaging tests also aid in

the development of a treatment plan, as they provide detailed information about the structure and function

of the affected area, and can help guide surgical decisions. However, it is important to note that imaging

tests may not always show the extent of the damage caused by coloboma.

B. Treatment

for coloboma varies depending on the severity of the condition and the specific area of the body affected.

In some cases, surgery may be necessary to repair the defect or improve visual function. For those

with coloboma of the eye, treatments such as glasses, contact lenses, vision therapy, or medication

may be recommended to improve vision. Additionally, individuals with coloboma may require ongoing

monitoring and management of associated conditions, such as hearing loss or kidney abnormalities. In

cases of coloboma affecting the heart or other organs, treatment may involve medication and lifestyle

changes to reduce the risk of complications. Early diagnosis and treatment can help improve outcomes

for individuals with coloboma and reduce the risk of long-term complications.

1. Eye Coloboma

Eye coloboma is a congenital disorder that occurs during the early stages of fetal development and results

in irregular-shaped pupils, iris, retina or optic nerve. The severity of the condition ranges from mild to

severe, depending on the location and size of the defect. Eye coloboma can affect either one or both

eyes, and in some cases it can lead to visual impairment or blindness. The causes of the disorder are not

fully understood, but research suggests that genetic mutations and environmental factors can play a role.

Common associated conditions include microphthalmia, nystagmus, and cataract. Treatment options vary

depending on the severity of the condition and may include corrective lenses, surgery, or visual aids.

- Vision correction devices

One of the most common methods of treating vision issues is through the use of vision correction devices.

These devices come in many forms, including glasses, contact lenses, and surgical interventions like

LASIK. Glasses and contacts work by correcting the way light enters the eye, allowing the wearer to see

more clearly. LASIK surgery, on the other hand, reshapes the cornea to improve the eye's focus. While

these methods can be effective for many people, they may not work for everyone. Additionally, people

with certain eye conditions like coloboma may require specialized vision correction devices or methods.

It is important for individuals with vision issues to work with their eye care professionals to determine

the best treatment options for their specific needs.

- Surgery

Surgery is often required in cases where individuals with coloboma have severe vision impairment or

complications with their eye structure. The surgical approach depends on the location, size, and severity of

the coloboma. For instance, individuals with coloboma of the iris may require cosmetic surgery to correct

the disfigurement. Surgical intervention for optic nerve or retina coloboma, on the other hand, typically

involves repairing or stabilizing the damaged tissue. Surgical procedures can include vitrectomy, scleral

buckling, or retinal detachment surgery. Following surgery, individuals may require further treatment

or vision therapy to fully restore their vision and ensure that the coloboma does not cause further

complications.

2. Skin Coloboma

Skin coloboma, also known as cutaneous coloboma, is a rare condition characterized by a visible absence

of skin in a particular area of the body. This results in a gap or notch in the skin, which can vary in shape

and depth. Skin coloboma can occur anywhere on the body, but is most commonly seen in the neck, back,

and abdomen. This condition is typically present at birth and may be associated with other developmental

abnormalities. Although the exact cause of skin coloboma is not known, it is believed to be related to the

abnormal development of embryonic tissues during pregnancy. Skin coloboma is treated with surgical

intervention, which typically involves closure of the gap in the skin using tissue from another area of the

body.

Surgery is often necessary for individuals with coloboma, particularly those experiencing visual impairment

or at risk for further complications. The type of surgery needed is largely dependent on the location

and size of the coloboma. In some cases, surgery may be required to repair clefts in the iris or remove

supporting tissue to prevent retinal detachment. For optic nerve colobomas, surgery may be necessary

to improve vision by reducing the pressure on the optic nerve. Although surgery can greatly improve

overall quality of life for those with coloboma, it carries risks such as infection and bleeding, and may

not always completely resolve visual impairment. Thus, careful consideration and consultation with a

medical professional is essential before undergoing surgery.

In conclusion, coloboma is a rare developmental anomaly that can occur in several parts of the eye,

resulting in vision loss or other visual problems. There are various types of coloboma, depending on

which part of the eye is affected. The condition can be caused by genetic mutations or environmental

factors, such as maternal drug use during pregnancy. Coloboma may also be an isolated condition or

associated with other genetic syndromes or conditions. Early diagnosis and treatment are important to

improve the chances of optimal vision and proper management of associated conditions. Current research

is investigating potential therapies, including gene therapy, to treat coloboma and prevent vision loss.

VI. Conclusion

In conclusion, coloboma is a rare congenital eye abnormality that affects various structures within the

eye. The term coloboma is derived from the Greek word ‘kolobos’ which means ‘mutilated or cut

short.’ Although the condition is generally not associated with significant visual impairment, it can result

in severe vision loss in some cases. The diagnosis of coloboma is typically made during infancy or

early childhood, and prompt referral to an ophthalmologist is recommended. Genetic testing is often

recommended to identify any underlying conditions or syndromes that may be associated with the

condition. Early identification and management of coloboma is crucial for preventing or minimizing the

risk of visual impairment and associated health complications.

A. Overview of Coloboma

Coloboma is a rare congenital genetic disorder that can affect different parts of the body, including the

eyes, ears, and other organs. It is characterized by an abnormality in the development of the eye, which

results in a missing piece of tissue in the iris, lens, choroid, or optic nerve. Coloboma can lead to a range

of vision problems, such as poor depth perception, nearsightedness, and sensitivity to bright light. The

condition occurs in approximately one in every 10,000 live births and can be caused by a variety of factors,

including genetic mutations, exposure to certain medications or toxins during pregnancy, or complications

during fetal development. While there is no known cure for coloboma, early diagnosis and treatment can

help manage its associated conditions and improve quality of life.

B. Importance of Early Diagnosis and Treatment

Early diagnosis and treatment are crucial in managing coloboma. If left untreated, coloboma can result in

various visual disabilities such as blindness and strabismus. These consequences can significantly affect

an individual's quality of life and interfere with their daily activities and overall well-being. Therefore,

early detection of coloboma can help prevent these complications and optimize treatment outcomes.

Additionally, early intervention can also improve the chances of preserving or improving vision overall.

Early diagnosis and treatment can be achieved through regular eye exams and prompt referral to a

specialist. As such, it is essential to seek medical attention as soon as possible if any symptoms or signs

of coloboma are noted.

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