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Living with Achromatopsia

Achromatopsia is an inherited condition that affects approximately 1 in every 33,000 Americans.

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Living with Achromatopsia Optometrist

Achromatopsia is a rare genetic autosomal recessive disorder that is also known as total color blindness and complete achromatopsia. Basically, autosomal recessive disorder means that patients have received the abnormal gene from both parents and not just one. This condition presents with photophobia (eye discomfort in bright light), reduced visual acuity, nystagmus, and complete monochromacy (the complete inability to distinguish colors). In about 75 percent of cases, mutations in the CNGB3 and CNGA3 genes are responsible for the condition.

Achromatopsia is an inherited condition that affects approximately 1 in every 30,000 to 40,000 Americans.

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Onset

In children, achromatopsia is typically first detected around six months of age because of symptoms of photophobia or nystagmus. With age, the nystagmus becomes less noticeable, while the other symptoms of the syndrome become more prominent. During the first six to seven years of life, visual acuity improves but remains around 20/200. Other than that, it does not worsen as a person ages and is considered stable.

How can a low vision optometrist help you?

How can a low vision optometrist help you?

Living with achromatopsia means facing everyday challenges head-on. Simple tasks like reading, driving, enjoying TV, playing sports, using digital devices, recognizing faces, and moving around can be difficult. Thankfully, with today's low vision aids and technology, individuals with achromatopsia have new opportunities to participate more fully in life. Our low vision specialists are here to conduct detailed assessments to pinpoint your unique needs and recommend the best aids and strategies to improve your daily life.

Aids and Strategies for Achromatopsia

Reading Glasses and Bifocals: These are crucial for clearer vision during close-up tasks, offering a significant improvement for those with achromatopsia.

Optical Magnifiers: Tools like CCTVs can make reading small print much easier, supporting daily literacy activities.

Telescope Glasses: These glasses, either monocular or bioptic, allow for clearer vision of distant objects, aiding in safer navigation and transportation.

Computer and Phone Use: Special software that enlarges text and improves screen contrast can transform the use of digital devices.

Tinted Glasses: Not only do these glasses help correct vision issues, but they also reduce light sensitivity and enhance visual comfort.

UV Protection: Sunglasses or lenses with UV protection are recommended to lessen discomfort from bright lights.

Prism Lenses: For significant vision loss, prism lenses can enhance reading capabilities beyond what traditional glasses offer.

Driving Possibilities: Specialized glasses may enable driving, offering greater independence for those with achromatopsia.

Visual Training: Techniques aimed at improving contrast sensitivity and visual acuity are especially helpful, offering a new way to manage symptoms.

We encourage anyone facing challenges due to achromatopsia to consider a low vision evaluation. Discovering the right aids and techniques can truly change your life.

Hope through Research and Treatment

While achromatopsia currently has no cure, there's promising research in the pipeline. Clinical trials are exploring gene replacement therapies aimed at the CNGA3 and CNGB3 genes. These efforts hold the potential for significant advancements. In the meantime, our focus remains on relieving symptoms and enhancing quality of life with the best tools and strategies available.

Can I drive if I have achromatopsia?

Can I drive if I have achromatopsia?

People with achromatopsia usually have good side vision and only a little bit of vision loss that doesn’t get worse over time. This means many of them can learn to drive safely using special tools. Even though it can be hard for them to tell apart traffic lights or read signs because of their color vision issues, there’s a great solution: bioptic telescopes and special lenses.

What’s a Bioptic Telescope? Imagine glasses with a mini telescope attached right above where you normally look. These cool gadgets can be added to regular glasses and set up for one or both eyes. Like binoculars, they make far-away things look bigger and clearer. This is super helpful for driving because it helps people with achromatopsia see traffic lights and signs from farther away.

Seeing Traffic Lights Better Some really smart adjustments, like wearing red contact lenses, can help people with achromatopsia see traffic lights better. These changes, along with the bioptic telescope, make it easier to drive safely.

This special setup for glasses is changing the game for people with achromatopsia. It gives them a chance to drive by themselves, making everyday life a bit easier and more independent. It’s like having a superpower that turns a challenge into an opportunity for safe and confident driving.

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Contact lenses for achromatopsia

Contact lenses for achromatopsia

For those living with achromatopsia, finding comfort and clarity in their vision can be a challenge due to light sensitivity. Fortunately, specialized contact lenses designed specifically for achromatopsia can help.

Achromatic Soft Contact Lenses

These lenses are a game-changer for people with achromatopsia. They reduce the amount of light that gets into the eye, which helps with light sensitivity. It's important that these lenses are custom-fitted. This ensures they have the right darkness, filter color, and size to match each person's needs perfectly.

Red Central Contact Lenses

Red central contact lenses are a big help for those with achromatopsia. They cut down on the light that enters the eyes, making it easier to see naturally in daylight without squinting.

B30 Contact Lenses

B30 lenses are a great option for their blend of looks and functionality. They have a dark brown color, which many people with achromatopsia prefer for how they look. Beyond their appearance, these lenses also enhance vision.

B60 Contact Lenses

For those who are very sensitive to light, B60 lenses offer an even darker option. They are darker than B30 lenses and provide extra protection from bright light, making them ideal for individuals with high light sensitivity.

By choosing the right type of lens, individuals with achromatopsia can significantly improve their daily comfort and quality of life. These lenses offer a personalized solution to manage light sensitivity and enhance vision.

Signs and symptoms

Achromatopsia is a rare condition that combines five distinct eye issues, making it unique and complex. Here's a simplified breakdown of its symptoms:

  1. Color Blindness: People with this condition find it hard to differentiate colors.
  2. Blurry Vision: Even with glasses, they can't see clearly.
  3. Difficulty Seeing in Bright Light: Bright days can be overwhelming, making it hard to see.
  4. Uncontrollable Eye Movements: Their eyes may move rapidly without control.
  5. Light Sensitivity: Bright lights can be uncomfortable or even painful.

A comprehensive study found that light sensitivity is particularly challenging for adults with achromatopsia, often causing significant distress.

Impact on Children

Children with achromatopsia may face unique challenges, such as:

  • Choosing Colors Improperly: They might use incorrect colors for common objects in their drawings.
  • Struggling with Color Identification: Identifying and distinguishing colors of pencils, crayons, paints, and markers can be difficult.
  • Difficulties Drawing in Low Light: Dim lighting makes drawing or coloring a challenging task.
  • Reading Challenges: Colored pages can be hard to read and understand.

These insights into achromatopsia aim to enhance understanding and empathy towards those affected by the condition, emphasizing the importance of support and appropriate accommodations.

  • Have a hard time reading colored pages
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Can I drive if I have achromatopsia?

How does it affect your vision

In our eyes, we have two main types of cells that help us see the world: cone photoreceptors and rod photoreceptors. Think of cones as the cells that help you see colors and details right in front of you. Healthy eyes have about 6 million of these! They're the reason we enjoy colorful flowers and can read fine print. But, if these cones aren't working well, seeing colors and sharp details can become difficult, leading to color blindness or blurry vision.

Rods, on the other hand, are like our night-time helpers. We have around 120 million rods, and they let us see when it's dark and help us with seeing things on the side (peripheral vision). Without them working right, it's tough to see in dim light or notice things not directly in front of us.

Types of Achromatopsia: Complete and Incomplete

Achromatopsia comes in two main types, and they affect people differently:

  • Complete Achromatopsia: This is the more challenging type. People with complete achromatopsia don't see colors at all (total color blindness). They also may have nystagmus (where the eyes make involuntary movements), be extra sensitive to light (photophobia), have trouble seeing details (reduced visual acuity), and find bright light overwhelming (hemeralopia).
  • Incomplete Achromatopsia: Those with incomplete achromatopsia mainly have trouble with seeing colors (color blindness) and their sharpness of vision might not be as good. However, their symptoms are generally less severe compared to complete achromatopsia.
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Common Questions

Patients with achromatopsia are diagnosed through clinical and family history, visual acuity testing, color vision assessment, and fundoscopic examination. It may require additional tests such as optical coherence tomography (OCT), fundus autofluorescence, and electroretinogram (ERG). It may also require several color vision tests such as the Ishihara test.
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According to a global survey, 23% of children were incorrectly diagnosed with retinal or cone dystrophy prior to receiving an accurate diagnosis of achromatopsia. Over a period of more than five years, adults with achromatopsia typically see an average of seven healthcare providers. One third of these individuals were initially diagnosed with retinal or cone dystrophy before being accurately diagnosed with achromatopsia. That is why it is very important to see our low vision optometrist as soon as you or your child start exhibiting symptoms that are listed above.

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