Learn About Some Rare Eye Diseases

Despite the great medical advances that exist today, there are currently different types of rare diseases that affect our physical, mental and even sensory capacity. Given this scenario, it is best to know your symptoms to identify if you suffer from any of them and go to an ophthalmological consultation as soon as possible.

Today JL Rohatgi Hospital will address some rare eye diseases that could be affecting you and have not been diagnosed. Interested in learning… And what are they? How are they treated? We tell you.

What are rare eye diseases?

Rare diseases have a low prevalence in the population, as they only affect a limited number of people. Among so many possibilities, the eyes could not escape. Luckily, we have treatments to deal with these ocular pathologies.

It is possible to recognize them because they share certain characteristics. However, they could have different clinical manifestations and symptoms vary from person to person. Although they do have one factor in common: their genetic origin and presence throughout the individual’s life.

To prevent those affected from suffering a worsening of the disease, it is essential to act in a timely manner. This is without leaving aside the fact that certain conditions could also indirectly harm family members, friends and caregivers.

What are rare eye diseases?

It is estimated that there are between six thousand and seven thousand types of rare diseases that alter people’s health status.

The more precise the information, the pattern of symptoms and the definition of the tests, the easier it will be to identify the signs that may occur since childhood.

It is important to know from ophthalmological professionals which are the most common. Therefore, carefully read the following information.

1. Stargardt

This pathology manifests itself in children and young adults. It affects the central area of ​​the retina (the macula) and is characterized by causing the progressive degeneration of its cells, such as photoreceptors. Therefore, loss of central vision is experienced, affecting detailed vision and making it impossible to carry out common activities such as reading, recognizing people, etc.

As time passes and the disease progresses, vision loss becomes more severe, which could result in the patient only retaining a certain degree of peripheral vision.

The first symptoms could be ignored during childhood and are identified in adulthood.

How is it identified?

The best way to identify Stargardt disease is by attending an annual ophthalmological consultation. Has your detailed vision become blurry or have dark areas? It is time to attend the eye care clinic to evaluate your eye health.

To identify or rule out that you suffer from this disease, the ophthalmologist can proceed to dilate the pupils to examine the retina or use the fluorescein angiography method. In this last exam, a special yellow dye (fluorescein) is injected into a vein in the arm, which after a short time will reach the blood vessels of the eyes.

Using a special camera, images will be captured as the dye passes through the retina, thus helping the ophthalmologist visualize any anomaly that may exist.


There is currently no cure for this disease. However, we must mention that research is being carried out to study the mutations that cause this pathology and other dystrophies, with the aim of testing therapies that can restore or stop the loss of vision associated with Stargardt disease.

2. Nyctalopia

This is a condition that affects the development of vision at night or when you are in a place with poor lighting. It is also known as night blindness and affects people’s ability to function in low-light environments. Walking, driving and even moving around the home become complicated activities to carry out.

What diseases can cause Nyctalopia?

Among them stand out:

  • Mellitus diabetes.
  • Retinitis pigmentosa.

The development of Nyctalopia increases with age, so it is necessary to detect eye conditions in time.

Do you have trouble seeing at night? Make an appointment with your ophthalmologist to make a timely diagnosis. Specifically, about the disorder of the cells in the retina and rods, which causes this condition.

3. Amblyopia

It is better known as lazy eye disease, because it occurs when vision is not fully developed, due to the loss of interaction between one eye and the brain. Therefore, it does not correspond to the failure of any organic function.

According to our experience, Amblyopia affects 2 or 3 out of every 100 children.

Do you have small children between 3 and 5 years old? You should know that this evil is evident during childhood, especially during the first years of life when it is most obvious.


It might stem from additional factors like:

  • Cataract: The lens of the eye becomes opacified and could cause vision to develop properly in that eye.
  • Strabismus: By not looking at the eyes in the same direction, to avoid double vision, the brain may be able to ignore the image coming from the crossed eye, therefore preventing it from developing correctly.
  • Refractive errors: Myopia, hyperopia, and astigmatism cause it, since they may be more accentuated in one eye, affecting the development of the eye’s vision worse.

The specialist can use different examination methods, such as:

  • Visual acuity test.
  • Study of the cornea.
  • Pupil dilation.
  • Analysis of extrinsic and intrinsic ocular motility.
  • Colour test, etc.


Does your child have a vision problem that causes Amblyopia? If so, there are different methods to treat them. Some doctors recommend the use of prescription glasses,  the use of penalizing filters on the glass of the glasses, and even brain training through eye patches or drops to force the use of the lazy or lazy eye.

4. Achromatopsia

This is the highest degree of colour blindness that exists, as it causes the affected person to lose the ability to see colours. That is, the eyes only allow the detection of grey shadows.

The cause of this disorder is the absence of functional cones or photoreceptors in the retina and it is a hereditary pathology. Patients with complete Achromatopsia can only perceive black, white and grey tones. For their part, those who suffer from it in its incomplete form may perceive some limited colours.

However, the most serious thing is that it generates an atypical sensitivity to light, which is very annoying for those who suffer from it. It also produces eye movements and aggravates myopia, thanks to the low visual acuity typical of the pathology.

Although there is no cure, it is possible to take measures to prevent the disorder from affecting daily life and generating other conditions associated with light, such as the use of glasses with specific filters according to the patient’s vision and photophobia.

5. Ocular Albinism

Perhaps this is one of the most unusual diseases. It refers to a genetic disorder from birth and has no cure. It is easy to detect because it affects the production of ocular pigment, always at different levels of severity.

When the gene is inherited by a woman, she shows almost no symptoms or variations in her vision, since the disorder is derived from the X chromosome, however, she will inherit it from her male children. There are additional types of inheritance, though.

It is possible that those affected suffer from other visual alterations due to Ocular Albinism. For example:

  • An involuntary movement of the eyes back and forth is called nystagmus.
  • Lack of visual acuity.
  • Reduced night vision.
  • Among other alterations.


Regarding treatment, there is no one that provides a solution to this problem. However, vision can be improved with rehabilitation.

The use of dark glasses or coloured contact lenses will be a great help when they are sensitive to light to make the situation more bearable throughout life. And, in addition, it will be possible to perform surgery for strabismus in patients who suffer from it, to improve the appearance of the eyes.

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