How is Eales Disease diagnosed?

TL;DR: Eales disease is primarily a diagnosis of exclusion made by an ophthalmologist through a comprehensive dilated eye examination and retinal imaging. Because Eales disease lacks a single definitive biomarker, clinicians must rule out other inflammatory or vascular retinal conditions before confirming the diagnosis.

How is Eales disease diagnosed?

The diagnostic process for Eales disease is often a journey of elimination. Because there is no single genetic test or blood marker, the diagnosis relies on the clinical assessment of characteristic retinal changes. Ophthalmologists typically follow a systematic approach to differentiate Eales disease from other conditions that cause peripheral retinal periphlebitis and neovascularization.

What tests are used to identify Eales disease?

To evaluate Eales disease, specialists utilize specialized imaging and laboratory screenings to rule out systemic infections or autoimmune disorders. Key diagnostic tools include:

• Fundus Fluorescein Angiography (FFA): The gold standard for visualizing peripheral vascular leakage and non-perfusion characteristic of Eales disease.


• Optical Coherence Tomography (OCT): Used to monitor for macular edema or tractional changes.


• Systemic Screening: Blood tests to exclude tuberculosis (Mantoux test or IGRA), sarcoidosis (ACE levels), and syphilis, which can mimic the presentation of Eales disease.


• Clinical Examination: A thorough dilated slit-lamp examination to observe peripheral retinal periphlebitis.

Which specialists are involved in the diagnostic journey?

Patients often experience a "diagnostic odyssey" because Eales disease is rare and presents with non-specific early symptoms. An ophthalmologist, specifically a retina specialist or a uveitis expert, is the primary clinician responsible for the diagnosis. If you feel your symptoms are being overlooked, it is vital to request a referral to a tertiary eye care center where physicians have experience with rare inflammatory retinal diseases.

What conditions are in the differential diagnosis?

Because Eales disease shares features with other vascular eye conditions, physicians must distinguish it from:

• Diabetic retinopathy


• Sickle cell retinopathy


• Ocular sarcoidosis


• Retinal vasculitis secondary to infections like tuberculosis

Next steps

• Consult a retina specialist or uveitis expert for a definitive evaluation.


• Request a copy of your fundus imaging and angiography reports to keep in your personal health file.


• Join the 23 members of the DiseaseMaps.org community who are navigating similar experiences with Eales disease to share resources and support.

Medical disclaimer: This information is for educational purposes and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet: Portal for rare diseases and orphan drugs


• PubMed: Current clinical literature on idiopathic retinal vasculitis