10 Rare Eye Diseases List- How Do I Know If My Child Has an Eye Problem?

Rarest Eye Disease

If you or your loved ones have rare eye diseases, keep this in mind: While this condition may be unusual, you are not alone. And while most doctors don’t know much about your condition, there are specialists and organizations that do. They are dedicated to helping people with all kinds of rare eye diseases and their families. Find out what they offer.

Rare Eye Diseases List

List of rare eye diseases with pictures

National Eye Institute has information on a number of rare eye diseases, including:

  • Anophthalmia and Microphthalmia
  • Bietti’s Crystalline Dystrophy
  • Behçet’s Disease
  • Coloboma
  • Graves’ Eye Disease
  • Idiopathic Intracranial Hypertension
  • Retinitis Pigmentosa
  • Retinoblastoma
  • Stargardt Disease
  • Usher Syndrome

1. Anophthalmia and Microphthalmia

  • Summary: Anophthalmia and Microphthalmia
  • Signs: Being born with unusually small eyes (microphthalmia) or without one or both eyes (anophthalmia)
  • Diagnosis:  Prenatal tests, physical exam
  • Treatment: Prosthetic devices, surgery, medicine
Rare Eye Diseases

What are anophthalmia and microphthalmia?

microphthalmia and anophthalmia are eye conditions that people are born with. Microphthalmia occurs when a child has one or both small eyes. Both conditions are rare and can lead to vision loss or blindness. Anophthalmia occurs when a baby is born without one or both eyes.
There is no cure for people born with anophthalmia or microphthalmia that can create a new eye or restore sight. But early treatment can help the growth and development of infants and children with these conditions.

What causes anophthalmia and microphthalmia?

Most of the time, doctors do not know what causes anophthalmia or microphthalmia. These conditions can be caused by:

Changes in genes. (genetic mutations) These changes occur during pregnancy before the baby is born. These changes can also lead to other birth defects.

Some medications can cause anophthalmia and microphthalmia if you take them during pregnancy.

Coming into contact with harmful things could also cause anophthalmia and microphthalmia. This may include :

  • X-rays
  • Chemicals
  • Drugs
  • Pesticides
  • Radiation
  • Viruses

Experts think that a combination of genes and other factors, such as harmful things in your environment, can also cause anophthalmia and microphthalmia.

2. Bietti’s Crystalline Dystrophy

  • Summary: Bietti’s Crystalline Dystrophy
  • Symptoms: Loss of vision especially night vision and peripheral (side) vision
  • Diagnosis: Dilated eye exam, genetic testing
  • Treatment: None

What is Bietti’s Crystalline Dystrophy?

Bietti’s crystalline dystrophy (BCD) is a genetic disease and it’s rare. In BCD outer layer of the front of the eye). People with, crystals made of fatty acids build in your retina (the light-sensitive layer of tissue in the back of the eye) and your cornea (the clear

BCD May first experience symptoms in their teens or early twenties, such as difficulty seeing in low light or out of the corner of the eye. Over time, this leads to eyesight loss.

There is currently no proven cure for BCD, but vision restoration can help you get the most out of your vision.

What causes BCD?

BCD is a genetic disease, which means it is transmitted from parents. You will only have symptoms if both of your parents have the BCD and pass it on to you. If only one parent has the gene, you will carry the BCD gene but have no symptoms.

Read My Article About Color Blindness

3. Behçet’s Disease

  • Summary: Behçet’s Disease
  • Symptoms: Eye pain, blurry vision, red eyes, genital sores, mouth sores, skin problems
  • Diagnosis: Medical history
  • Treatment: Medicine (steroids)
rare eye diseases

What is Behçet’s disease?

Behçet’s is a rare disease that can damage your blood vessels. It can cause problems in many parts of your body, including your eyes. But you may have periods when your symptoms go away, which is called remission.

There is no cure for Behçet’s, but there are some treatments that can help you manage it.

What causes Behçet’s Disease?

Most of the symptoms of Behçet’s are caused by inflammation in your blood vessels. Inflammation usually occurs when your immune system is fighting an infection. Behçet’s disease instead makes your immune system attack your blood vessels. It can cause problems such as swelling and pain in many parts of your body.

Experts are not sure why this happens. People with Behçet’s may have a gene (HLA – B51) that causes problems with their immune system. Bacteria, viruses, or anything else in the environment can cause this reaction.

If you have Behçet’s,  you cannot pass it on to anyone else.

4. Coloboma

  • Summary: Coloboma
  • Symptoms: Missing tissue in a part of your eye, vision loss, sensitivity to light
  • Diagnosis: Eye exam
  • Treatment: Contact lenses, Eyeglasses, vision aids, early intervention, surgery (to improve appearance)
rare eye diseases

What is Coloboma?

Coloboma is an eye disease that people are born with. This happens when normal tissue in or around the eye is missing. It can affect one eye or both eyes.

If your child has coloboma, talk to your doctor about the best care plan for it. There are treatments that can help them make the most out of their eyesight.

What causes coloboma?

Coloboma happens when during pregnancy a baby’s eye does not develop normally, because of abnormal or altered genes that affect eye development. Sometimes coloboma runs in families.

 drinking alcohol, during pregnancy, can also increase the risk of coloboma disease for the baby.

Coloboma often occurs with conditions that affect other parts of the body, such as Wolf-Hirschhorn syndrome and CHARGE syndrome.

5. Graves’ Eye Disease

  • Summary: Graves’ Eye Disease
  • Symptoms: dry eyes, double vision, bulging eyes, puffy eyelids, eyelids that pull back more than usual
  • Diagnosis: Eye exam
  • Treatment: medicine, Eye drops, surgery
rare eye diseases

What is Graves’ Eye Disease?

Graves’ eye disease occurs when the swelling around the eyes expels them. It is caused by Graves ‘disease and is also called GED, Graves’ ophthalmopathy, or (TED) thyroid eye disease.

this disease is often mild and can go away on its own. It does not usually cause eyesight loss, but it can cause double vision and other symptoms. Treatment can help with these symptoms.

What causes Graves’ eye disease?

Researchers are not sure what caused Graves. He thinks people with certain genes are more likely to have it. A virus or something else in the environment can act as a “trigger” causing disease in people who have these genes.

Graves’ disease is not contagious. You can’t take it from other people or give it to them.

6. Idiopathic Intracranial Hypertension

  • Summary: Idiopathic Intracranial Hypertension(IIH)
  • Symptoms: Blind spots, peripheral (side) Headaches, vision loss
  • Diagnosis: Vision test, Dilated eye exam, other medical tests
  • Treatment: Weight loss, medicine, surgery
rare eye diseases

What is Idiopathic Intracranial Hypertension?

(IIH) occurs when too much pressure around the brain causes symptoms such as headaches and vision changes. “Idiopathic” means unknown cause, “hypertension” means hypertension and “intracranial” means in the skull.

IIH occurs when too much cerebrospinal fluid around the brain and spinal cord builds up in your skull. This puts extra pressure on your brain and the nerves in the back of your eye, called the optic nerve.

Talk to your eye doctor if you notice a change in your vision. your eye doctor can examine and find out if your symptoms are related to IIH or any other condition. there are treatments for (IIH) that can help with the symptoms.

What causes IIH?

Experts do not know the cause of IIH. But other types of intracranial hypertension have known causes:

Acute intracranial hypertension occurs suddenly, usually due to an accident or stroke

Chronic intracranial hypertension increases over time, usually due to health problems such as blood clots or brain tumors, or taking certain medications.

If doctors can’t find a cause for high blood pressure, it’s called IIH.

7. Retinitis Pigmentosa

  • Summary: Retinitis Pigmentosa (RP)
  • Early Symptoms: Loss of night vision and side (peripheral) vision
  • Later Symptoms: Vision loss and blindness
  • Diagnosis: Electroretinography (a type of retina test), dilated eye exam, genetic test,
  • Treatment: vision rehabilitation, low vision aids.
rare eye diseases

What is Retinitis Pigmentosa?

retinitis pigmentosa is a group of rare eye diseases that affect retina. (RP) causes cells in the retina to break down slowly over time, leading to loss of vision. RP is a genetic disease. Symptoms usually begin in childhood, and eventually, most people lose most of their sight.

There is no cure but Vision Rehabilitation (training) and vision Aids programs can help people to get the most out of their vision.

What causes Retinitis Pigmentosa?

Most of the time, retinitis pigmentosa is caused by changes in the genes. These mutated genes are passed from parents to children. RP is linked to different genes and can be inherited in different ways. If you have RP, you can talk to your doctor or a specialist called a genetic counselor to find out more about your children’s risk of getting RP from you.

Sometimes RP occurs as part of other genetic conditions, such as Usher’s syndrome.

8. Retinoblastoma

  • Summary: Retinoblastoma
  • Symptoms: Pupil looks white in bright light or flash photos, eye swelling, crossed eyes, eye pain, teary eyes.
  • Diagnosis: ultrasound of the eye, dilated eye exam,
  • Treatment: Chemotherapy, laser treatment, radiation, cryotherapy (freeze treatment), surgery to remove the eye (enucleation)
rare eye diseases

What is retinoblastoma?

Retinoblastoma is a rare eye disease (cancer) that develops in the retina. it is most common in children under 5 years of age – but in rare cases, it can occur in older children and adults. It can affect one eye or both.

Retinoblastoma can cause blindness and can be fatal. But early diagnosis and treatment can help prevent cancer from spreading and prevent vision loss. It is therefore important to call your child’s doctor immediately if you notice any symptoms of retinoblastoma.

What causes retinoblastoma?

Retinoblastoma occurs when genetic mutations cause retinal cells to grow into tumors. Most of the time, these gene mutations are accidental – but sometimes the mutated gene is inherited from the parents.

When retinoblastoma is inherited, it can affect both eyes.

9. Stargardt Disease

  • Summary: Stargardt Disease
  • Symptoms: sensitivity to light, Loss of central vision
  • Diagnosis: Dilated eye exam, genetic testing, photos, or scans of the retina.
  • Treatment: vision rehabilitation, Vision aids
  • Clinical Trial: Oral Metformin for Treatment of ABCA4 Retinopathy (Stargardt Disease)
rare eye diseases

What is Stargardt disease?

Stargardt is a rare genetic disease of the eye that occurs when fat accumulates on the macula – a small part of the retina that is essential for sharp, central vision.

Vision loss usually begins in childhood – but some people with Stargard’s do not begin to lose their sight until adults. There is no cure for this disease, but restoring vision can help people make the most of their remaining sight.

What causes Stargardt disease?

Stargardt is usually caused by a mutation in a gene called ABCA4. and it affects how your body uses vitamin A.

The body uses vitamin A (a light-sensitive layer of tissue in the back of the eye) to make cells in the retina. The ABCA4 gene then makes a protein to clear the remaining fat content. In Stargard’s disease, this gene does not work – so the fatty substance accumulates on the macula in a yellow cluster. Over time, this fatty substance kills light-sensitive cells and destroys your central vision.

Stargardt is an inherited genetic disease, which means it is passed from parents to children.

10. Usher Syndrome

  • Summary: Usher Syndrome
  • Early Symptoms: Hearing loss or deafness (usually from birth)
  • Later Symptoms: Loss of night vision and side (peripheral) vision
  • Diagnosis: Dilated eye exam, balance test, hearing test, genetic test
  • Treatment: Vision aids, vision rehabilitation, hearing aids, or cochlear implants
rare eye diseases

What is Usher syndrome?

it is a rare genetic disease and affects both vision and hearing. It causes eye disease called retinitis pigmentosa and deafness or hearing loss. Sometimes, it causes problems with balance.

People with Usher syndrome are born with it, but it is usually diagnosed in children or adolescents. There is no cure for this Syndrome, but treatment can help people deal with their vision, hearing, and balance problems. so it’s important if you notice any symptoms talk to your child’s doctor right away.

What causes Usher Syndrome?

Usher syndrome is caused by a mutation in a gene. It is an inherited genetic disease, which means that these altered genes are passed from parents to children. Scientists have found 9 different genes that can cause usher syndrome.


Q1. What’s the rarest eye disease?

List of rare eye diseases
Ans: Anophthalmia and Microphthalmia
·        Bietti’s Crystalline Dystrophy
·        Behçet’s Disease
·        Coloboma
·        Graves’ Eye Disease
·        Idiopathic Intracranial Hypertension
·        Retinitis Pigmentosa
·        Retinoblastoma
·        Stargardt Disease
·        Usher Syndrome

Q2. Which eye disease has no treatment?

Ans: The world celebrates the Day of Rare Eye Diseases on February 28. Stargard’s disease is one, and like many others, there is no cure for Stargardt at the present.
This genetic macular degeneration affects young people under the age of 20 and is hereditary.

Q3. Are all eye diseases curable?

Many rare eye diseases are currently incurable, but treatment can improve a patient’s quality of life and slow the progression of damage.

Q4. What are the most common eye diseases?

Common Eye Disorders and Diseases
·         Refractive Errors.
·         Age-Related Macular Degeneration.
·         Cataract.
·         Diabetic Retinopathy.
·         Glaucoma.
·         Amblyopia.
·         Strabismus.

Q5. What are eye problems associated with covid?

People respond to COVID-19 infections in different ways. While some people have mild to severe respiratory problems, others have no symptoms. Pink eye is the most common symptom of COVID in the eyes of adults and children.
Doctors are still learning how COVID-19 affects the eyes

Dr Sadia Ayaz
Dr Sadia Ayaz

I am an ophthalmologist and eye surgeon

Articles: 47

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