Retinal Disorders and Color Vision

Retinal disorders, including cone dystrophies, rod dystrophies, diabetic retinopathy, and other related conditions, can have varying impacts on vision and specifically, color vision. Understanding these disorders helps in diagnosing and managing them effectively. Whether through genetic mutations or defects in retinal processes, these conditions highlight the complexity of our visual system and the need for ongoing research and treatment options. Fortunately, a simple extended color vision test called the Waggoner Computerized Color Vision Test can detect these retinal disorders by identifying acquired color vision deficiencies.

Cone Dystrophies: What Are They?

Cone dystrophies are a group of retinal disorders that affect the cone cells in the retina, which are responsible for color vision and visual sharpness. One type of cone dystrophy involves defects in photopigments, the molecules in cones that help us see colors.

Types of Cone Dystrophies:

  1. Photopigment Defects:
    • Protanopia and Deuteranopia: These are color vision deficiencies caused by problems with the cone photopigments. For example, some individuals may have a condition where their L-cone photopigment gene is partially deleted, leading to poor color vision and progressive cone degeneration.
    • Opsin Gene Mutations: Mutations in the genes that produce opsins (the proteins in photopigments) can disrupt color vision. For instance, a specific mutation called cys203arg can lead to significant color vision issues and even a condition known as Bornholm eye disease. The location of the gene mutation affects the severity and type of vision problem.
  2. Phototransduction Defects:
    • These involve issues with the process that converts light into electrical signals in the cones. Defects in certain proteins or enzymes involved in this process can cause a type of color vision deficiency similar to complete achromatopsia (total color blindness).
  3. Channelopathies:
    • Defects in channels that help regulate the flow of ions in cone cells can lead to rod-monochromatism, where individuals see the world in shades of gray but may retain some basic color discrimination.

 

Rod Dystrophies: What to Know

Rod dystrophies, like retinitis pigmentosa, primarily affect rod cells in the retina, which are crucial for low-light vision. While these conditions generally don't impair color vision significantly, some patients may experience changes in color vision over time.

  • Types of Color Vision Deficiencies in Rod Dystrophies:
    • Type III Deficiency: This type of color vision deficiency is commonly seen in rod dystrophies but usually doesn’t impair vision drastically.
    • Associated Defects: In some cases, patients might also have deficiencies affecting their color vision mechanisms, especially if their vision worsens over time.

 

Diabetic Retinopathy: What to Know

Diabetic retinopathy is often associated with acquired color vision deficiencies, meaning that the ability to perceive colors can change as a result of the disease. Research from the Early Treatment of Diabetic Retinopathy Study found that about half of the patients had abnormal color vision when tested with the F-M 100-Hue test, a tool used to measure color discrimination.  In this study they found that 51% of the eyes tested had normal color vision while about 26% of eyes showed an isolated problem with the S-mechanism, which affects the perception of blue colors. The remaining cases included a mix of S-mechanism and M-L mechanism deficiencies. Many peer-reviewed studies indicate that the FM-100 is equivalent to the Nagel Anomaloscope, the gold standard for color vision diagnostics. Additionally, validation of the Waggoner Computerized Color Vision Test by the U.S. Navy also confirms its comparability to the Nagel Anomaloscope.

  • Causes of Color Vision Changes:
    • Lenticular Changes: In some patients with lenses still in place (phakic patients), the lens of the eye can change, filtering out short-wavelength light (blue light) and causing color vision issues.  Cataracts are another example of lenticular change, and extended color vision tests are a useful way to help measure cataract progression.
    • S-Cone Sensitivity: Even after accounting for lens changes, research has shown that S-cones, which are responsible for detecting blue light, are particularly affected in diabetic retinopathy. This suggests that the disease selectively impacts these cones.

There are many types of retinal disorders that can significantly impact vision and lead to color vision deficiency.  By monitoring the color vision of suspected individuals, eye care practitioners may get an early sign that a patient might need specialized care.

 

References:

Simunovic, M. P. (2016). Acquired color vision deficiency. Survey of Ophthalmology, 61(2), 132-155. doi:10.1016/j.survophthal.2015.11.004