Young man presents with new distortion
Click Here to Manage Email Alerts
A 19-year-old man presented to the New England Eye Center’s retina service with new distortion and a scotoma in the left eye.
The patient first noticed changes in his vision 1 day before presentation. He denied any flashes of light, floaters, pain, light sensitivity or diplopia. He was otherwise feeling well with no recent viral illness. His review of systems was negative.
He had an otherwise unremarkable medical, surgical and ocular history and was not taking any medications.
Examination
The patient’s best corrected visual acuity was 20/20 in the right eye and 20/20 in the left eye. The pupils were round and reactive to light with no relative afferent pupillary defect. IOPs were 16 mm Hg in the right eye and 17 mm Hg in the left. External and slit lamp exam findings were normal.
On dilated exam, the vitreous was clear, and the optic nerves appeared pink and sharp with no disc swelling bilaterally. The macula, vessels and peripheral retina were normal in the right eye. Examination of the left eye revealed a peripapillary lesion extending into the nasal macula with pigment at the temporal edge, and a small hemorrhage was noted at the temporal edge of the scar adjacent to the fovea (Figure 1). The vessels and peripheral retina were normal. OCT of the macula revealed subretinal hyperreflective material with associated intraretinal fluid, as well as nasal outer retinal loss and atrophy (Figure 2). Fundus autofluorescence (FAF) showed hypoautofluorescence in the area of the lesion with hyperautofluorescence at the superior and nasal border (Figure 3). Fluorescein angiography (FA) showed early hypofluorescence and diffuse staining in the area of the lesion, as well as late leakage along the temporal borders of the lesion (Figure 4).
Source: Jarod Santoro, MD, and Lana Rifkin, MD
What is your diagnosis?
See answer below.
Unilateral peripapillary chorioretinal lesion
The differential diagnosis for a unilateral peripapillary chorioretinal lesion with associated choroidal neovascularization (CNV) includes both infectious and noninfectious inflammatory etiologies.
A unilateral peripapillary chorioretinal lesion should raise suspicion for a possible infectious etiology, such as tuberculosis. Ocular TB can present as a serpiginous-like choroidopathy (SLC), with a single lesion or multiple lesions involving the outer retina or inner choroid. Infectious SLC tends to be multifocal in nature, with lesions that usually do not emanate from the optic disc, and there is typically associated vitritis. Lesions can be difficult to distinguish from serpiginous choroiditis (SC) and can appear similar on FA as well as FAF. In SLC, Rifkin and colleagues showed that spectral-domain OCT may show elevation of the retinal pigment epithelium-Bruch’s membrane complex with focal increases in choroidal thickness, which is not seen in SC and can be helpful in distinguishing SC from SLC. Our patient did not have any of these OCT findings, did not have systemic TB symptoms and was not from nor had traveled to an area where TB was endemic. These factors make an SLC infectious etiology less likely. Other infectious etiologies that should be considered are presumed ocular histoplasmosis syndrome (POHS), toxoplasmosis and syphilis.
The noninfectious inflammatory etiologies include acute posterior multifocal placoid pigment epitheliopathy (APMPPE), relentless placoid chorioretinitis (RPC), persistent placoid maculopathy (PPM), multifocal choroiditis (MFC), SC and sarcoidosis. APMPPE is a self-limiting condition that tends to occur in young healthy patients with minimal to no anterior chamber and vitreous inflammation. RPC is characterized by numerous multifocal lesions that are distributed throughout the fundus and classically seen in the mid- to far periphery. PPM is usually a bilateral disease with a lesion involving the macula but not the juxtapapillary region, as seen in our patient. CNV is common in this entity. MFC can present in both eyes with multiple lesions in the posterior pole and mid-periphery and can be associated with vitritis; CNV is common. MFC is usually seen in myopic women in their second to sixth decade of life. SC typically affects healthy individuals and presents with yellow-gray lesions initially in the juxtapapillary area that extend in a serpentine fashion. Patients can have initial symptoms of blurred vision, scotomas, floaters and metamorphopsias. Old lesions cause geographic atrophy, and new lesions typically arise at the border of old lesions. Finally, sarcoidosis can present with unilateral chorioretinal lesions, but it is usually accompanied by concurrent inflammation.
Workup and management
Given our patient’s clinical exam and ancillary test findings, there was concern for SC with active CNV at the temporal edge of the peripapillary scar. The patient was given an intravitreal injection of bevacizumab. QuantiFERON Gold, angiotensin converting enzyme, lysosome and treponemal antibody all returned within normal limits. Four weeks later, the patient reported improvement in his scotoma, and imaging showed improvement of the macular CNV. The patient was given another intravitreal injection of bevacizumab as there was still evidence of activity, and he was started on oral prednisone with a slow taper. The patient flared while on the steroid taper, and thus, the steroids were increased and maintained until he was able to start long-term immunomodulatory therapy with adalimumab. He received two more bevacizumab injections throughout his steroid taper and before initiation of adalimumab, with eventual resolution of the CNV.
Since starting adalimumab, the lesion has been stable. The patient’s best corrected vision in the affected eye is maintained at 20/20, and he is monitored closely.
Discussion
Serpiginous choroiditis typically affects healthy individuals from the second to seventh decade of life. The cause is unknown but may be an underlying autoimmune process with a specific trigger. It is classically a bilateral disease; however, patients usually present with unilateral symptoms and ocular findings. Patients can present with worsening of vision, floaters, metamorphopsia, scotoma or a visual field defect. Ocular exam usually reveals a quiet eye, but mild anterior chamber or vitreous inflammation can be present. Lesions are typically well-circumscribed gray-yellow patches in the peripapillary region but occasionally can start in the macula. New lesions tend to form at the edge of healed scars and move in a serpentine fashion. The lesions cause irreversible damage to the outer retina and choroid that result in atrophy and may result in permanent vision loss if the lesions involve the fovea.
Diagnosis of SC can often be made on fundus appearance alone. However, it is prudent to order laboratory tests to rule out infectious causes that can mimic the same fundus appearance, such as TB, before starting immunosuppressive therapy. Imaging studies such as FAF, OCT and FA may also be useful in monitoring for disease progression in a patient with known SC. FAF can detect early activation of new SC lesions and is less invasive than FA. New lesions can show hyperautofluorescence at the border of old lesions, which show hypoautofluorescence due to atrophy and damage to the RPE. OCT of active lesions can show hyperreflectivity of the outer retina and disruption to the photoreceptor layer. Healed lesions will show retinal atrophy. FA can detect new active lesions, revealing early hyperfluorescence, as well as CNV, a complication of SC.
The mainstay for treatment of SC is immunosuppressive therapy. Corticosteroids are often initiated during acute attacks but are not a viable long-term treatment option due to their side effect profile. SC is a bilateral disease that relapses and remits and can cause great morbidity if not treated. Thus, it is often necessary to start immunomodulatory agents to prevent recurrences and vision loss.
The prognosis for most patients with SC is guarded and is based on the ability to prevent recurrences. Complications of SC include CNV, which is the main cause of central vision loss. Intravitreal injection of anti-VEGF agents is the first-line treatment of inflammatory CNV. Other complications include subretinal hemorrhages, serous retinal detachment, cystoid macular edema and epiretinal membrane.
In summary, in a young healthy patient presenting with a scotoma and a large geographic peripapillary scar, serpiginous choroiditis should be high on the differential, but other etiologies including infectious and autoimmune conditions should be ruled out. Additional imaging can be helpful to determine if there are active lesions or CNV. Prompt diagnosis and treatment with immunosuppressive therapy are required to preserve vision.
- References:
- Carreño E, et al. Eye (Lond). 2012;doi:10.1038/eye.2012.121.
- Macedo S, et al. BMC Ophthalmol. 2020;doi:10.1186/s12886-020-01527-5.
- Nazari Khanamiri H, et al. Surv Ophthalmol. 2013;doi:10.1016/j.survophthal.2012.08.008.
- Pakzad-Vaezi K, et al. Ophthalmol Retina. 2018;doi:10.1016/j.oret.2017.11.001.
- Parikh R, et al. Ophthalmology. 2018;doi:10.1016/j.ophtha.2018.06.009.
- Parodi MB, et al. Br J Ophthalmol. 2014;doi:10.1136/bjophthalmol-2013-304237.
- Rifkin LM, et al. Ocul Immunol Inflamm. 2015;doi:10.3109/09273948.2014.964421.
- Yanoff M, et al. Ophthalmology. Mosby; 2004.
- For more information:
- Jarod Santoro, MD, and Lana Rifkin, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 800 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.
- Edited by Christine Benador-Shen, MD, and Malgorzata Dymerska Peterson, MD. They can be reached at New England Eye Center, Tufts University School of Medicine, 800 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.