Serpiginous Choroidopathy: Navigating A Slowly Fading World
“Their lives are forever altered by drastically diminished vision, with limited options for treatment.”
Brief Summary of Disease
It is only natural for a person’s eyesight to deteriorate as they age, but individuals with serpiginous choroidopathy experience decline far beyond what is normal. The rare and progressive disease typically affects both eyes, leaving some patients legally blind in their older adulthood. The disease appears spontaneously in otherwise healthy young adults, with a higher frequency in males than females.1 Patients with serpiginous choroidopathy are still able to live a full and healthy life, but their lives are forever altered by drastically diminished vision, with limited options for treatment.
Etiology & Pathology
The exact cause of serpiginous choroidopathy remains elusive.2 One well-accepted theory suggests the condition is a result of autoimmunity, whereby the body attacks and induces inflammation in the eyes.3 Other theories suggest serpiginous choroidopathy is linked to infections like herpes virus and tuberculosis.3 While this link is present in some patients, the majority have no indication of these infectious diseases.3 In cases where individuals experience tuberculosis as a co-morbidity, patients are said to instead have tubercular serpiginous-like choroiditis and the tuberculosis is believed to be the sole cause of the scars on the vascular layer of the eyes.1,4
Classic serpiginous choroidopathy only affects the eyes and is characterized by lesions that form on the retina.2 While the lesions themselves typically resolve within 6-8 weeks, the regions they leave behind will deteriorate.1 Lesions then resurge after a variable amount of time.1 When lesions occur within or near crucial regions of the retina, vision loss occurs.1 As lesions continue to form and reoccur, the patient’s vision decreases, resulting in vision loss in one or both eyes.1 About one-quarter of patients experience vision loss to the point where their visual acuity reaches 20/200.1 A visual acuity of 20/200 is a far cry from the norm of 20/20 and means that when 20 feet away from an object, the individual can only see as well as a typical person could see when 200 feet away.5 This constitutes legal blindness and requires massive lifestyle shifts by the patient.
Symptoms
Individuals in the early stages of serpiginous choroidopathy may not experience any symptoms and may fail to detect the disease until lesions begin to affect the macula, or the central part of the retina.3 When this occurs, patients will not experience any pain or discomfort, but typically notice a blurring or decrease in their central vision.2 Peripheral vision typically remains unaffected.2 Common symptoms at this stage include difficulty reading and wavy lines and/or flashing lights that distort vision.6 Due to the disease’s slow progression and absence of identifiable symptoms, the majority of patients already possess retinal scars when they are first seen by an ophthalmologist.6
Patients with tubercular serpiginous-like choroiditis may experience additional symptoms including fever and weight loss, which are not apparent in non-tubercular serpiginous choroidopathy.1
Diagnosis
Since symptoms are typically not detected in the early stages of the disease, serpiginous choroidopathy can be difficult to diagnose. Diagnosis is made following vision loss by an ophthalmologist via ophthalmic examinations utilizing specialized techniques.2 Additional tests are often conducted to rule out other causes of retinal lesions and decreased central vision. For example, tuberculosis skin tests are usually carried out, particularly in individuals from regions with high tuberculosis incident rates.3 If additional tests yield no positive results the patient is diagnosed with serpiginous choroidopathy.
“Those who experience severe vision loss must learn new ways of navigating their world.”
Prognosis
While serpiginous choroidopathy does not alter an individual’s life expectancy, it does have drastic impacts on the patient’s life. Those who experience severe vision loss must learn new ways of navigating their world, such as with vision aids like talking clocks and closed-circuit televisions. Treatment for classical serpiginous choroidopathy is only recommended when the fovea, located within the macula, is affected, and is limited to anti-inflammatory medication.2 Corticosteroids have been used as a treatment option, but they are unlikely to prevent disease progression unless they are used constantly and over a long period of time, and lesions often reoccur following steroid withdrawal.1 Those with tubercular serpiginous-like choroiditis are given corticosteroids and anti-tuberculosis medication and are less likely to experience macular lesions associated with severe loss of vision.3
Children
While the cause of serpiginous choroidopathy remains unknown, there are no known genetic or familial links and therefore cannot be passed down from a parent to their child. The disease cannot be diagnosed prior to the emergence of symptoms and therefore is not tested for in newborns or children.
“With so much mystery shrouding the disease, individuals are often left to experience their vision slowly slip away, with few treatment options available.”
Current Research
Current research aims at identifying therapeutics that slow or stop the progression of serpiginous choroidopathy. A 2018 study from the Massachusetts Eye Research and Surgery Institute examined the effects of chlorambucil, a chemotherapeutic drug typically used in the treatment of chronic lymphoid leukemia, on 17 patients with serpiginous choroidopathy. Patients were treated for an average of 8.4 months and 12% achieved drug-free remission following treatment, while only 15% of the eyes examined lost visual acuity.7 Although the compound was successful in preventing vision loss in patients, more research is still needed to develop reliable treatment regimens to halt or prevent vision loss in individuals with serpiginous choroidopathy. More research is also needed to determine the exact cause of the disease, which could lead the way for developments in treatments and diagnostics. With so much mystery shrouding the disease, individuals are often left to experience their vision slowly slip away, with few treatment options available.
Relevent Resources
Canadian National Institute for the Blind (CNIB)
Works Cited:
1. Lim W-K, Buggage RR, Nussenblatt RB. Serpiginous Choroiditis. Surv Ophthalmol. 2005;50(3):231-244. doi:10.1016/j.survophthal.2005.02.010
2. Choroiditis, Serpiginous. NORD Natl Organ Rare Disord. https://rarediseases.org/rare-diseases/choroiditis-serpiginous/
3. Moorthy RS, Zierhut M. Serpiginous Choroiditis. In: Intraocular Inflammation. Heidelberg: Springer; 2016:1021-1032.
4. Gupta V, Bansal R, Gupta A. Continuous Progression of Tubercular Serpiginous-like Choroiditis After Initiating Antituberculosis Treatment. Am J Ophthalmol. 2011;152(5):857-863.e2. doi:10.1016/j.ajo.2011.05.004
5. Visual Acuity: What is 20/20 Vision? . https://www.aoa.org/patients-and-public/eye-and-vision-problems/glossary-of-eye-and-vision-conditions/visual-acuity
6. Laatikainen L, Erkkila H. A follow-up study on serpiginous choroiditis. Acta Ophthalmologica. 1981;59.
7. Ebrahimiadib N, Modjtahedi BS, Davoudi S, Foster CS. Treatment of Serpiginous Choroiditis with Chlorambucil: A Report of 17 Patients. Ocular Immunology and Inflammation. 2016;26(2).
Cite This Article:
Coles V., Chan G., Lewis K., Ho J. Serpiginous Choroidopathy: Navigating A Slowly Fading World . Illustrated by R Jong. Rare Disease Review. January 2020.
DOI:10.13140/RG.2.2.20274.76486.
