Steps that help your doctors determine your diagnosis

“I’m not sure what’s causing your symptoms.” These are words nobody wants to hear from their doctor. It can be frustrating and scary when your eye doctor can’t find a reason for the eye or vision issues you experience. 

Even so, there are steps you can take to help your doctors arrive at a diagnosis and find support while you seek answers.

Vision is arguably a person’s most important sense. When you can’t see properly, or your eyes are in pain, you naturally turn to the eye doctor for answers. A comprehensive eye exam, a thorough medical history, and, if needed, blood tests or imaging studies, are usually enough to diagnose an eye condition. 

Once a diagnosis is made, an eye doctor can provide a brief explanation of the condition and discuss your options for approaching treatment and managing your symptoms.

But sometimes even the best doctors aren't sure what may be causing your symptoms. When eye doctors can’t find a diagnosis, there are some steps that you can take as you proceed on the path to finding answers.

Globally, around 300 million people are living with one of over 7,000 rare diseases.  In the United States, this means that 30 million people have a rare disease. Among these 30 million people, some haverare eye diseases and others have eye or vision symptoms as a result of another type of rare medical condition.

Eye doctors are well-qualified to treat many different types of diseases and conditions. Some have additional training in specialized areas that make them uniquely qualified to handle unusual and difficult diagnoses. 

For example, certain ophthalmologists specialize in diseases of the cornea or the retina. Some optometrists specialize in binocular vision issues (how your eyes work together as a team) or in developing treatment strategies for people with low vision. 

If you’ve seen your regular eye doctor and they can’t find a diagnosis, ask if they can recommend an evaluation by a more specialized practitioner, such as a retina specialist, rheumatologist or neuro-ophthalmologist. They may also refer you to your primary care physician for a more broad assessment and general testing.

If you are having difficulty finding a specialist, the National Institutes of Health (NIH) has a Genetic and Rare Diseases Information Centerthat provides information on how to find a specialist. 

It is important to follow through with any referrals you receive. Some rare conditions are not commonly seen by eye doctors and may require an evaluation by an expert or specialist in another medical field to obtain an accurate diagnosis and comprehensive treatment plan.  

If you are experiencing issues in other parts of your body at the same time as your eye symptoms, consult specialists who deal with those body systems. Some rare diseases affect several parts of the body, including the eyes, and require the coordination of several specialists to find the correct diagnosis. 

Always remember to tell your doctors which other healthcare professionals are involved with your care so they can work together to coordinate a wide-ranging treatment and management plan.

The first step to finding the cause for your eye symptoms is to establish a team of qualified doctors that specialize in the symptoms you’re experiencing, both ocular and medical. 

At your visit with a specialist, be prepared to provide a thorough medical and family history. In addition, bring notes that provide specific details of your symptoms. Presenting your specialist with an organized personal health record will help them focus on asking additional questions and explaining what additional tests will allow them to arrive at a diagnosis. 

When creating your personal health record, ask yourself the following questions:

Symptoms

Eyes

• What are your eye symptoms?
• Are your symptoms in both of your eyes or just one?
• Are your symptoms getting worse, staying the same or improving?
• Did your symptoms start suddenly or gradually?
• Do your eyes feel swollen?
• Are your symptoms better or worse during certain times of the day?
• Has something like this happened before?
• Do you have symptoms in other parts of your body that started at the same time?
• Does anything make your eyes feel better?
• Do your eyes feel red, sore or painful?
• What causes the discomfort to get worse? What helps it to feel better?
• Have you noticed any discharge? When?
• Did something happen that could have caused this? For instance, could you have injured your eye or gotten something in your eye?
• Did you start any new medications or supplements when you symptoms began?
• Did you try any new products (eye drops, hair products, creams) or foods when your symptoms started?
• Did you start a new job or hobby that exposes your eyes to any hazardous materials?

Vision

• What are your vision symptoms?
• Is your vision getting worse, staying the same or improving?
• Did your distance or near vision decrease? When?
• Are you having vision problems with your entire field of vision or just parts of it? For example, have you experienced tunnel vision or central vision loss?
• If your vision changed, did it start suddenly or gradually?
• Are you seeing dark or blurry areas?
• Does the blur remain in the same spot or seem to float around?
• Does your vision fluctuate?
• Are the symptoms in both your eyes or just one?
• Are you having double vision? At a distance or close up? When you look in certain directions?
• Does anything make your vision issue improve?

Medical and family history

Providing your eye doctor with a detailed family and medical history provides clues to possible hereditary disorders. Although your doctor likely has a form that includes these questions, it is helpful to think about this in advance so that you can provide thorough and complete answers. 

When writing your medical and family history, make sure to consider:

• Does anyone in the family have an eye condition like yours? If not, are there other eye or vision conditions that run in your family? Siblings, parents, aunts, uncles and grandparents should be included.
• Do you have any past or current medical conditions?
• Do you have any known drug and food allergies or sensitivities?
• Were there any known complications from your birth?
• What is your immunization status?
• Have you had any past surgeries or invasive procedures? If so, did you have any complications from them?
• What is your past or present use of tobacco, drugs and/or alcohol?
• Have you recently traveled outside the U.S., and could you have gotten any illnesses while abroad?
• Do you have copies of past blood test results, imaging results or other medical evaluations?
• What other healthcare professionals are involved in your care?

One place to learn about your symptoms and their possible causes is the National Organization for Rare Disorders (NORD). NORD is an organization that focuses on patient advocacy for those who have rare diseases. Along with the resources listed below, NORD provides detailed information on rare conditions and links to related support networks.

The NIH also provides resources, including:

• Genetic and Rare Diseases Information Center (GARD)
• Rare Diseases Registry Program (RaDaR)
• Rare Diseases Community Resources
• Rare Diseases Clinical Research Network (RDCRN) 

In addition, these organizations provide information and support networks:

• Global Genes
• The EveryLife Foundation for Rare Diseases
• Our Odyssey 

If you’re feeling distressed and upset about a lack of diagnosis, or from receiving a diagnosis that has a poor prognosis, the Centers for Disease Control and Prevention (CDC) has a number of helplines that can provide support during this time. 

Difficulty arriving at a diagnosis for an eye or vision condition is an anxiety-provoking situation. Seeking support while you go through the process of searching (and waiting) for a diagnosis is crucial. 

Understandably, the uncertainty of not knowing a diagnosis or prognosis for your condition can create a great deal of stress. The organizations listed above provide resources and information on groups that provide both emotional and mental health support. 

You can take steps to help your doctors determine your diagnosis. These include creating a personal health record, seeking referrals to appropriate specialists, and educating yourself using available resources for rare conditions. 

Remember that it’s natural to feel worried and frustrated. Connecting with available support networks can be a vital part of learning to cope with the stress of finding (or waiting to find) a hard-to-determine diagnosis.

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